Canonical Allele Identifier: CA10069742
Gene: COL6A1 HGNC NCBI

Linked Data

dbSNP Id: rs762872449

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.45987610C>T , CM000683.2:g.45987610C>T GRCh38
NC_000021.8:g.47407524C>T , CM000683.1:g.47407524C>T GRCh37
NC_000021.7:g.46231952C>T NCBI36
NG_008674.1:g.10862C>T , LRG_475:g.10862C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000361866.8:c.760C>T MANE Select ENSP00000355180.3:p.Pro254Ser
ENST00000361866.7:c.760C>T ENSP00000355180.3:p.Pro254Ser
ENST00000492851.1:n.412C>T
ENST00000612273.1:c.760C>T ENSP00000483630.1:p.Pro254Ser
NM_001848.2:c.760C>T , LRG_475t1:c.760C>T NP_001839.2:p.Pro254Ser
NM_001848.3:c.760C>T MANE Select NP_001839.2:p.Pro254Ser