Canonical Allele Identifier: CA410522744
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2815469
ClinVar RCV Id: RCV003631697

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.45990417G>T , CM000683.2:g.45990417G>T GRCh38
NC_000021.8:g.47410331G>T , CM000683.1:g.47410331G>T GRCh37
NC_000021.7:g.46234759G>T NCBI36
NG_008674.1:g.13669G>T , LRG_475:g.13669G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000361866.8:c.997G>T MANE Select ENSP00000355180.3:p.Val333Leu
ENST00000361866.7:c.997G>T ENSP00000355180.3:p.Val333Leu
ENST00000612273.1:c.997G>T ENSP00000483630.1:p.Val333Leu
NM_001848.2:c.997G>T , LRG_475t1:c.997G>T NP_001839.2:p.Val333Leu
NM_001848.3:c.997G>T MANE Select NP_001839.2:p.Val333Leu