(used for variant description)
(last modified July 21, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_001127701.1 in the SERPINA1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008290.1, covering SERPINA1 transcript NM_001127701.1.
(upstream sequence)
. . . g.5033
tgggcaggaactgggcactgtgcccagggcatg c.-541
. . . . . . g.5093
cactgcctccacgcagcaaccctcagagtcctgagctgaaccaagaaggaggagggggtc c.-481
. . . . . . g.5153
gggcctccgaggaaggcctagccgctgctgctgccaggaattccaggttggaggggcggc c.-421
. . . . . . g.5213
aacctcctgccagccttcaggccactctcctgtgcctgccagaagagacagagcttgagg c.-361
. . . . . . g.5273
agagcttgaggagagcaggaaaggtgggacattgctgctgctgctcactcagttccacag c.-301
| 02 . . . . . g.6742
| ggcggcagtaagtcttcagcatcaggcattttggggtgactcagtaaatggtagatcttg c.-241
. . . . . . g.6802
ctaccagtggaacagccactaaggattctgcagtgagagcagagggccagctaagtggta c.-181
. . . . . . g.6862
ctctcccagagactgtctgactcacgccaccccctccaccttggacacaggacgctgtgg c.-121
. . | 03 . . . . g.7077
tttctgagccag | cagcctcccccgttgcccctctggatccactgcttaaatacggacgag c.-61
. . . . . . | 04 g.12455
gacagggccctgtctcctcagcttcaggcaccaccactgacctgggacagtgaatc | gaca c.-1
. . . . . . g.12515
ATGCCGTCTTCTGTCTCGTGGGGCATCCTCCTGCTGGCAGGCCTGTGCTGCCTGGTCCCT c.60
M P S S V S W G I L L L A G L C C L V P p.20
. . . . . . g.12575
GTCTCCCTGGCTGAGGATCCCCAGGGAGATGCTGCCCAGAAGACAGATACATCCCACCAT c.120
V S L A E D P Q G D A A Q K T D T S H H p.40
. . . . . . g.12635
GATCAGGATCACCCAACCTTCAACAAGATCACCCCCAACCTGGCTGAGTTCGCCTTCAGC c.180
D Q D H P T F N K I T P N L A E F A F S p.60
. . . . . . g.12695
CTATACCGCCAGCTGGCACACCAGTCCAACAGCACCAATATCTTCTTCTCCCCAGTGAGC c.240
L Y R Q L A H Q S N S T N I F F S P V S p.80
. . . . . . g.12755
ATCGCTACAGCCTTTGCAATGCTCTCCCTGGGGACCAAGGCTGACACTCACGATGAAATC c.300
I A T A F A M L S L G T K A D T H D E I p.100
. . . . . . g.12815
CTGGAGGGCCTGAATTTCAACCTCACGGAGATTCCGGAGGCTCAGATCCATGAAGGCTTC c.360
L E G L N F N L T E I P E A Q I H E G F p.120
. . . . . . g.12875
CAGGAACTCCTCCGTACCCTCAACCAGCCAGACAGCCAGCTCCAGCTGACCACCGGCAAT c.420
Q E L L R T L N Q P D S Q L Q L T T G N p.140
. . . . . . g.12935
GGCCTGTTCCTCAGCGAGGGCCTGAAGCTAGTGGATAAGTTTTTGGAGGATGTTAAAAAG c.480
G L F L S E G L K L V D K F L E D V K K p.160
. . . . . . g.12995
TTGTACCACTCAGAAGCCTTCACTGTCAACTTCGGGGACACCGAAGAGGCCAAGAAACAG c.540
L Y H S E A F T V N F G D T E E A K K Q p.180
. . . . . . g.13055
ATCAACGATTACGTGGAGAAGGGTACTCAAGGGAAAATTGTGGATTTGGTCAAGGAGCTT c.600
I N D Y V E K G T Q G K I V D L V K E L p.200
. . . . | 05 . . g.14565
GACAGAGACACAGTTTTTGCTCTGGTGAATTACATCTTCTTTAAAG | GCAAATGGGAGAGA c.660
D R D T V F A L V N Y I F F K G | K W E R p.220
. . . . . . g.14625
CCCTTTGAAGTCAAGGACACCGAGGAAGAGGACTTCCACGTGGACCAGGTGACCACCGTG c.720
P F E V K D T E E E D F H V D Q V T T V p.240
. . . . . . g.14685
AAGGTGCCTATGATGAAGCGTTTAGGCATGTTTAACATCCAGCACTGTAAGAAGCTGTCC c.780
K V P M M K R L G M F N I Q H C K K L S p.260
. . . . . . g.14745
AGCTGGGTGCTGCTGATGAAATACCTGGGCAATGCCACCGCCATCTTCTTCCTGCCTGAT c.840
S W V L L M K Y L G N A T A I F F L P D p.280
. . . . . . g.14805
GAGGGGAAACTACAGCACCTGGAAAATGAACTCACCCACGATATCATCACCAAGTTCCTG c.900
E G K L Q H L E N E L T H D I I T K F L p.300
. | 06. . . . . g.16124
GAAAATGAAGACAGAAG | GTCTGCCAGCTTACATTTACCCAAACTGTCCATTACTGGAACC c.960
E N E D R R | S A S L H L P K L S I T G T p.320
. . . . . . g.16184
TATGATCTGAAGAGCGTCCTGGGTCAACTGGGCATCACTAAGGTCTTCAGCAATGGGGCT c.1020
Y D L K S V L G Q L G I T K V F S N G A p.340
. . . . | 07 . . g.17067
GACCTCTCCGGGGTCACAGAGGAGGCACCCCTGAAGCTCTCCAAG | GCCGTGCATAAGGCT c.1080
D L S G V T E E A P L K L S K | A V H K A p.360
. . . . . . g.17127
GTGCTGACCATCGACGAGAAAGGGACTGAAGCTGCTGGGGCCATGTTTTTAGAGGCCATA c.1140
V L T I D E K G T E A A G A M F L E A I p.380
. . . . . . g.17187
CCCATGTCTATCCCCCCCGAGGTCAAGTTCAACAAACCCTTTGTCTTCTTAATGATTGAA c.1200
P M S I P P E V K F N K P F V F L M I E p.400
. . . . . g.17244
CAAAATACCAAGTCTCCCCTCTTCATGGGAAAAGTGGTGAATCCCACCCAAAAATAA c.1257
Q N T K S P L F M G K V V N P T Q K X p.418
. . . . . . g.17304
ctgcctctcgctcctcaacccctcccctccatccctggccccctccctggatgacattaa c.*60
. . . . . . g.17364
agaagggttgagctggtccctgcctgcatgtgactgtaaatccctcccatgttttctctg c.*120
. . . . . . g.17424
agtctccctttgcctgctgaggctgtatgtgggctccaggtaacagtgctgtcttcgggc c.*180
. . . . . . g.17484
cccctgaactgtgttcatggagcatctggctgggtaggcacatgctgggcttgaatccag c.*240
. . . . . . g.17544
gggggactgaatcctcagcttacggacctgggcccatctgtttctggagggctccagtct c.*300
. . . . . . g.17604
tccttgtcctgtcttggagtccccaagaaggaatcacaggggaggaaccagataccagcc c.*360
. . . . . . g.17664
atgaccccaggctccaccaagcatcttcatgtccccctgctcatcccccactccccccca c.*420
. . . . . . g.17724
cccagagttgctcatcctgccagggctggctgtgcccaccccaaggctgccctcctgggg c.*480
. . . . . . g.17784
gccccagaactgcctgatcgtgccgtggcccagttttgtggcatctgcagcaacacaaga c.*540
. . . . . . g.17844
gagaggacaatgtcctcctcttgacccgctgtcacctaaccagactcgggccctgcacct c.*600
. . . . . . g.17904
ctcaggcacttctggaaaatgactgaggcagattcttcctgaagcccattctccatgggg c.*660
. . . . . . g.17964
caacaaggacacctattctgtccttgtccttccatcgctgccccagaaagcctcacatat c.*720
. . . . . . g.18024
ctccgtttagaatcaggtcccttctccccagatgaagaggagggtctctgctttgttttc c.*780
. . . . . . g.18084
tctatctcctcctcagacttgaccaggcccagcaggccccagaagaccattaccctatat c.*840
. . . . . . g.18144
cccttctcctccctagtcacatggccataggcctgctgatggctcaggaaggccattgca c.*900
. . . . . . g.18204
aggactcctcagctatgggagaggaagcacatcacccattgacccccgcaacccctccct c.*960
. . . . . . g.18264
ttcctcctctgagtcccgactggggccacatgcagcctgacttctttgtgcctgttgctg c.*1020
. . . . . . g.18324
tccctgcagtcttcagagggccaccgcagctccagtgccacggcaggaggctgttcctga c.*1080
. . . . . . g.18384
atagcccctgtggtaagggccaggagagtccttccatcctccaaggccctgctaaaggac c.*1140
. . . . . . g.18444
acagcagccaggaagtcccctgggcccctagctgaaggacagcctgctccctccgtctct c.*1200
. . . . . . g.18504
accaggaatggccttgtcctatggaaggcactgccccatcccaaactaatctaggaatca c.*1260
. . . . . . g.18564
ctgtctaaccactcactgtcatgaatgtgtacttaaaggatgaggttgagtcataccaaa c.*1320
. . . . . . g.18624
tagtgatttcgatagttcaaaatggtgaaattagcaattctacatgattcagtctaatca c.*1380
. . . . . . g.18684
atggataccgactgtttcccacacaagtctcctgttctcttaagcttactcactgacagc c.*1440
. . . . . . g.18744
ctttcactctccacaaatacattaaagatatggccatcaccaagccccctaggatgacac c.*1500
. . . . . . g.18804
cagacctgagagtctgaagacctggatccaagttctgacttttccccctgacagctgtgt c.*1560
. . . . . . g.18864
gaccttcgtgaagtcgccaaacctctctgagccccagtcattgctagtaagacctgcctt c.*1620
. . . . . . g.18924
tgagttggtatgatgttcaagttagataacaaaatgtttatacccattagaacagagaat c.*1680
. . g.18946
aaatagaactacatttcttgca c.*1702
(downstream sequence)
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