(used for variant description)
(last modified March 16, 2022)
This file was created to facilitate the description of sequence variants on transcript NM_000191.2 in the HMGCL gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000001.10, covering HMGCL transcript NM_000191.2.
(upstream sequence)
. . . . g.5044
cacgcggggcccagctggactgccgcgggggattctgggccaag c.-1
. . . . . . g.5104
ATGGCAGCAATGAGGAAGGCGCTTCCGCGGCGACTGGTGGGCTTGGCGTCCCTCCGGGCT c.60
M A A M R K A L P R R L V G L A S L R A p.20
| 02 . . . . . . g.9926
| GTCAGCACCTCATCTATGGGCACTTTACCAAAGCGGGTGAAAATTGTGGAAGTTGGTCCC c.120
| V S T S S M G T L P K R V K I V E V G P p.40
. . | 03 . . . . g.12912
CGAGATGGACTACAAAATGAAAAG | AATATCGTATCTACTCCAGTGAAAATCAAGCTGATA c.180
R D G L Q N E K | N I V S T P V K I K L I p.60
. . . . . . g.12972
GACATGCTTTCTGAAGCAGGACTCTCTGTTATAGAAACCACCAGCTTTGTGTCTCCTAAG c.240
D M L S E A G L S V I E T T S F V S P K p.80
. | 04 . . . . . g.13737
TGGGTTCCCCAG | ATGGGTGACCACACTGAAGTCTTGAAGGGCATTCAGAAGTTTCCTGGC c.300
W V P Q | M G D H T E V L K G I Q K F P G p.100
. . . . | 05 . g.16133
ATCAACTACCCAGTCCTGACCCCAAATTTGAAAGGCTTCGAGGCAGCG | GTTGCTGCTGGA c.360
I N Y P V L T P N L K G F E A A | V A A G p.120
. . . . . . g.16193
GCCAAGGAAGTAGTCATCTTTGGAGCTGCCTCAGAGCTCTTCACCAAGAAGAACATCAAT c.420
A K E V V I F G A A S E L F T K K N I N p.140
. . . . . . g.16253
TGTTCCATAGAGGAGAGTTTTCAGAGGTTTGACGCAATCCTGAAGGCAGCGCAGTCAGCC c.480
C S I E E S F Q R F D A I L K A A Q S A p.160
. | 06. . . . . g.19703
AATATTTCTGTGCGGGG | GTACGTCTCCTGTGCTCTTGGCTGCCCTTATGAAGGGAAGATC c.540
N I S V R G | Y V S C A L G C P Y E G K I p.180
. . | 07 . . . . g.22175
TCCCCAGCTAAAGTAGCTGAG | GTCACCAAGAAGTTCTACTCAATGGGCTGCTACGAGATC c.600
S P A K V A E | V T K K F Y S M G C Y E I p.200
. . . . . . g.22235
TCCCTGGGGGACACCATTGGTGTGGGCACCCCAGGGATCATGAAAGACATGCTATCTGCT c.660
S L G D T I G V G T P G I M K D M L S A p.220
. . . . . . g.22295
GTCATGCAGGAAGTGCCTCTGGCTGCCCTGGCTGTCCACTGCCATGACACCTATGGTCAA c.720
V M Q E V P L A A L A V H C H D T Y G Q p.240
. . . | 08 . . . g.25964
GCCCTGGCCAACACCTTGATGGCCCTGCAG | ATGGGAGTGAGTGTCGTGGACTCTTCTGTG c.780
A L A N T L M A L Q | M G V S V V D S S V p.260
. . . . . . g.26024
GCAGGACTTGGAGGCTGTCCCTACGCACAGGGGGCATCAGGAAACTTGGCCACAGAAGAC c.840
A G L G G C P Y A Q G A S G N L A T E D p.280
. . . | 09 . . . g.27919
CTGGTCTACATGCTAGAGGGCTTGGGCATTCACACG | GGTGTGAATCTCCAGAAGCTTCTG c.900
L V Y M L E G L G I H T | G V N L Q K L L p.300
. . . . . . g.27979
GAAGCTGGAAACTTTATCTGTCAAGCCCTGAACAGAAAAACTAGCTCCAAAGTGGCTCAG c.960
E A G N F I C Q A L N R K T S S K V A Q p.320
. g.27997
GCTACCTGTAAACTCTGA c.978
A T C K L X p.325
. . . . . . g.28057
gccccttgcccacctgaagccctggggatgatgtggaaataggggcacacacagatgatt c.*60
. . . . . . g.28117
catggatggggacatggaaatgagaataggttaaatggtgcaggtacctcatagccagct c.*120
. . . . . . g.28177
ctacacagaggtctctcctggcagaaagcaggcgaagggcaggaggagctgcttggcaga c.*180
. . . . . . g.28237
aggacctcctgcccagacctgaggagtgagaggctttgagggctgaagtctccctttgtt c.*240
. . . . . . g.28297
acggaccctggcccaggagttgaatgcctgaggacgtgtgggaaccccgttccctactta c.*300
. . . . . . g.28357
gcatgatccttgagtctcctctctggatggaatccgcgagctggccacctggccaccctc c.*360
. . . . . . g.28417
tacacggctccaccctgccatggccgtggggcccttgctctctgacttctcaggacacag c.*420
. . . . . . g.28477
gtcatggaggttcttcccaagctggcagaggccatttgtggaaagtggagagctacgtgg c.*480
. . . . . . g.28537
tggccgtctgccaactccagcatctctggaaaatctccacgctgaatgtgatttttgaaa c.*540
. . . . g.28583
acagcttatgtaattaaaggttgaatggcacatcataattccagca c.*586
(downstream sequence)
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