(used for variant description)
(last modified February 16, 2022)
This file was created to facilitate the description of sequence variants on transcript NM_052957.4 in the ACRC gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000023.10, covering ACRC transcript NM_052957.4.
(upstream sequence)
. . g.5021
ttcccagtggttgcaataacg c.-481
. . . . . . g.5081
gacttagaggtctggacaattcaagtaaggaacaaggctcgcttatccaagttctcgcag c.-421
. . . . . . g.5141
gataaaagtttgttatgaacgatttcacatggtttctctttatcagaaagttgttaggga c.-361
. . . . . . g.5201
cttttaatcgcagaattggcctcgggtgcccacgctctagtattgaaatggcggttttgg c.-301
. . . . . . g.5261
gacaaataagcaacatccgtgggagtggaaagcgacagacctgatcccggaagcgttaca c.-241
. . . . . . g.5321
gctaggcgccaagttcacaggcgcgaagttcaaatttgtcttgtgaccactgtgataggt c.-181
. . . . . . g.5381
gggtacaggggagcgcgggcgagcacacgtgaattactgctaccgccccctaggtccggg c.-121
. . . . . . g.5441
cactataaaggggcctgcgcctggcgttgttcatcgcagttgctccggatctttgcacac c.-61
. . . . . . | 02 g.7798
actccacgggcagttggaggtgagctgctgccggccacgccagaggctgcaacaccag | ac c.-1
. . . . . | 03 g.19099
ATGGATGGGTGCAAAAAAGAGCTGCCCCGCTTGCAAGAGCCGGAGGAGGACGAGGATTG | T c.60
M D G C K K E L P R L Q E P E E D E D C | p.20
. . . . | 04 . . g.19527
TACATCCTTAATGTTCAGTCAAGCAGTGATGACACCAGTGGGTCTT | CTGTGGCCAGAAGA c.120
Y I L N V Q S S S D D T S G S S | V A R R p.40
. . | 05 . . . . g.21347
GCTCCGAAGAGACAGGCGAG | TTGCATCCTTAATGTCCAGTCAAGGAGTGGTGACACCAGT c.180
A P K R Q A S | C I L N V Q S R S G D T S p.60
| 06. . . . | 07 . . g.24945
GGGTCTT | CTGTGGCCAGAAGAGCTCCGAAGAGACAGGCGAG | CTCCGTGGTAGTGATTGAC c.240
G S S | V A R R A P K R Q A S | S V V V I D p.80
. . . . . . g.25005
TCTGATTCTGATGAGGAATGTCACACCCATGAAGAGAAGAAAGCTAAGTTATTGGAAATA c.300
S D S D E E C H T H E E K K A K L L E I p.100
. | 08 . . . . . g.30614
AACAGCGACG | ATGAGAGTCCGGAGTGTTGTCATGTGAAGCCTGCCATCCAGGAACCTCCA c.360
N S D D | E S P E C C H V K P A I Q E P P p.120
. . . . . . g.30674
ATAGTTATTAGTGATGATGACAATGACGATGACAACGGTAATGATTTGGAAGTTCCCGAC c.420
I V I S D D D N D D D N G N D L E V P D p.140
. . . . . . g.30734
GACAACAGTGATGATTCAGAAGCTCCCGACGACAACAGTGATGATTCGGAAGCTCCTGAC c.480
D N S D D S E A P D D N S D D S E A P D p.160
. . . . . . g.30794
GACAACAGTGATGATTCGGAAGCTCCCGACGACAACAGTGATGATTCGGAAGCTCCCGAC c.540
D N S D D S E A P D D N S D D S E A P D p.180
. . . . . . g.30854
GACAATAGTGATGATTCGGATGTTCCCGACGACAACAGTGATGATTCATCCGACGACAAC c.600
D N S D D S D V P D D N S D D S S D D N p.200
. . . . . . g.30914
AGTGATGATTCATCCGACGACAACAGTGATGATTCGGATGTTCCCGACGACAAGAGTGAT c.660
S D D S S D D N S D D S D V P D D K S D p.220
. . . . . . g.30974
GATTCGGATGTTCCCGACGACAGCAGTGATGATTCGGATGTTCCCGACGACAGCAGTGAT c.720
D S D V P D D S S D D S D V P D D S S D p.240
. . . . . . g.31034
GATTCGGAAGCTCCCGACGACAGCAGTGATGATTCGGAAGCTCCCGACGACAGCAGTGAT c.780
D S E A P D D S S D D S E A P D D S S D p.260
. . . . . . g.31094
GATTCGGAAGCTCCCGACGACAGCAGTGATGATTCGGAAGCTCCCGACGACAGCAGTGAT c.840
D S E A P D D S S D D S E A P D D S S D p.280
. . . . . . g.31154
GATTCGGAAGCTTCCGACGACAGCAGTGATGATTCGGAAGCTTCCGACGACAGCAGTGAT c.900
D S E A S D D S S D D S E A S D D S S D p.300
. . . . . . g.31214
GATTCGGAAGCTCCCGACGACAAGAGTGATGATTCGGATGTTCCCGAAGACAAGAGTGAT c.960
D S E A P D D K S D D S D V P E D K S D p.320
. . . . . . g.31274
GATTCGGATGTTCCCGATGACAATAGTGATGATTTGGAAGTTCCTGTGCCAGCAGAAGAT c.1020
D S D V P D D N S D D L E V P V P A E D p.340
. . . . . . g.31334
TTGTGTAATGAAGGCCAAATTGCTTCAGATGAAGAAGAGCTGGTTGAGGCTGCTGCTGCT c.1080
L C N E G Q I A S D E E E L V E A A A A p.360
. . . . . . g.31394
GTCTCCCAGCATGATTCATCTGATGATGCTGGTGAGCAGGATCTTGGTGAGAATCTCAGC c.1140
V S Q H D S S D D A G E Q D L G E N L S p.380
. . . . . . g.31454
AAACCACCAAGTGATCCTGAGGCTAACCCTGAAGTTTCAGAGAGAAAGCTGCCAACTGAG c.1200
K P P S D P E A N P E V S E R K L P T E p.400
. . . . . . g.31514
GAAGAGCCTGCACCTGTGGTGGAACAATCAGGGAAAAGGAAGTCAAAAACCAAAACTATT c.1260
E E P A P V V E Q S G K R K S K T K T I p.420
. . . . . . g.31574
GTGGAGCCACCGAGGAAAAGGCAGACAAAGACCAAAAATATAGTGGAGCCACCAAGGAAA c.1320
V E P P R K R Q T K T K N I V E P P R K p.440
. . . . . . g.31634
AGGCAGACAAAGACCAAAAATATAGTGGAGCCACTGAGGAAGAGGAAGGCGAAAACCAAA c.1380
R Q T K T K N I V E P L R K R K A K T K p.460
. | 09 . . . . g.32680
AATGTATCTGTGACACCTG | GACATAAGAAGCGTGGGCCTTCAAAGAAGAAACCCGGTGCA c.1440
N V S V T P G | H K K R G P S K K K P G A p.480
. . | 10 . . . . g.35983
GCAAAAGTTGAAAAACGCAAGACTAG | GACTCCTAAATGCAAAGTCCCTGGATGTTTCTTG c.1500
A K V E K R K T R | T P K C K V P G C F L p.500
. . . . . . g.36043
CAAGACCTTGAAAAGTCAAAGAAATACTCTGGAAAAAATTTAAAGCGAAATAAGGATGAA c.1560
Q D L E K S K K Y S G K N L K R N K D E p.520
. . . . . | 11 . g.37666
TTGGTTCAGAGAATCTACGACCTGTTTAACAGATCCGTCTGTGATAAAAAG | CTGCCAGAG c.1620
L V Q R I Y D L F N R S V C D K K | L P E p.540
. . . . . . g.37726
AAACTACGCATAGGCTGGAATAACAAGATGGTGAAAACTGCTGGCTTATGCAGCACTGGT c.1680
K L R I G W N N K M V K T A G L C S T G p.560
. . . . . . g.37786
GAGATGTGGTACCCAAAGTGGCGGCGCTTTGCCAAGATCCAGATTGGCTTGAAAGTCTGC c.1740
E M W Y P K W R R F A K I Q I G L K V C p.580
. | 12 . . . . . g.39381
GACTCTGCAG | ACCGAATCCGGGATACCTTGATCCATGAAATGTGCCATGCTGCCTCCTGG c.1800
D S A D | R I R D T L I H E M C H A A S W p.600
. . . . . . g.39441
CTGATTGATGGTATCCATGATTCTCATGGTGACGCATGGAAGTATTATGCCAGGAAATCC c.1860
L I D G I H D S H G D A W K Y Y A R K S p.620
. . . . . . g.39501
AACAGGATACACCCGGAGCTGCCCAGGGTCACCCGTTGCCATAACTATAAGATTAACTAC c.1920
N R I H P E L P R V T R C H N Y K I N Y p.640
. . . | 13 . . . g.39863
AAGGTCCATTATGAATGTACTGGATGCAAAACGAG | GATTGGCTGCTACACCAAATCGTTG c.1980
K V H Y E C T G C K T R | I G C Y T K S L p.660
. . . . . . g.39923
GACACCAGCCGCTTCATCTGTGCCAAATGCAAGGGGTCTCTGGTCATGGTGCCATTAACT c.2040
D T S R F I C A K C K G S L V M V P L T p.680
. . . g.39959
CAGAAAGATGGGACCCGTATTGTGCCCCACGTGTGA c.2076
Q K D G T R I V P H V X p.691
. . . . . . g.40019
ccatttgctgtgtatgtgcagaagtattatagaaaaattatgcaggagatggctaggatt c.*60
. . . . . . g.40079
agccttggggatgtgatgaaaacacttggcaggaattacaaggcaatgaagaattcttaa c.*120
. . . . . . g.40139
ggttatcttagagtatattaatgtgagctatatcctttactggtaagaagttttagaaaa c.*180
. . . . . . g.40199
gtttgttttgtgaagttaggaatattagaatttaggtactgttaagtaagtaatgttaga c.*240
. . . . . . g.40259
atttaagattcatgttattaacgatgattgaccttaaatagggactctattgctaaccat c.*300
. . . . . . g.40319
tctgtgcccttgacagggtatttctgaagcccttgggatctaccttgggtcttacttgag c.*360
. . . . . . g.40379
ttccatatttttcacatgtagaacaaaatgcaaaagaaaagtgagttttcaagagtggca c.*420
. . . . . . g.40439
ggttgagagaggagaatgctggaaagaggacaagtttgagaggcaacacttaaacactag c.*480
. . . . . . g.40499
ggctactgtggcatctatgtagacaggaaagacaaacgtgtttcataaaattcgttgttg c.*540
. . . . . . g.40559
atggtattgattgaaactatctgagccatgtaatcaaaaaataaaagttttctgcatctt c.*600
g.40560
g c.*601
(downstream sequence)
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