Canonical Allele Identifier: CA410533002
Gene: COL6A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.46001262G>T , CM000683.2:g.46001262G>T GRCh38
NC_000021.8:g.47421176G>T , CM000683.1:g.47421176G>T GRCh37
NC_000021.7:g.46245604G>T NCBI36
NG_008674.1:g.24514G>T , LRG_475:g.24514G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000463060.6:n.231G>T
ENST00000361866.8:c.1832G>T MANE Select ENSP00000355180.3:p.Cys611Phe
ENST00000361866.7:c.1832G>T ENSP00000355180.3:p.Cys611Phe
ENST00000463060.5:n.231G>T
ENST00000498614.5:n.66G>T
ENST00000612273.1:c.1826G>T ENSP00000483630.1:p.Cys609Phe
NM_001848.2:c.1832G>T , LRG_475t1:c.1832G>T NP_001839.2:p.Cys611Phe
NM_001848.3:c.1832G>T MANE Select NP_001839.2:p.Cys611Phe