Canonical Allele Identifier: CA2392430020
Gene: COL6A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.45984319A= , CM000683.2:g.45984319A= GRCh38
NC_000021.8:g.47404233A= , CM000683.1:g.47404233A= GRCh37
NC_000021.7:g.46228661A= NCBI36
NG_008674.1:g.7571A= , LRG_475:g.7571A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000361866.8:c.278A= MANE Select ENSP00000355180.3:p.Tyr93=
ENST00000361866.7:c.278A= ENSP00000355180.3:p.Tyr93=
ENST00000612273.1:c.278A= ENSP00000483630.1:p.Tyr93=
NM_001848.2:c.278A= , LRG_475t1:c.278A= NP_001839.2:p.Tyr93=
NM_001848.3:c.278A= MANE Select NP_001839.2:p.Tyr93=