Canonical Allele Identifier: CA410533279
Gene: COL6A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.46001296C>A , CM000683.2:g.46001296C>A GRCh38
NC_000021.8:g.47421210C>A , CM000683.1:g.47421210C>A GRCh37
NC_000021.7:g.46245638C>A NCBI36
NG_008674.1:g.24548C>A , LRG_475:g.24548C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000463060.6:n.265C>A
ENST00000361866.8:c.1866C>A MANE Select ENSP00000355180.3:p.Ser622Arg
ENST00000361866.7:c.1866C>A ENSP00000355180.3:p.Ser622Arg
ENST00000463060.5:n.265C>A
ENST00000498614.5:n.100C>A
ENST00000612273.1:c.1860C>A ENSP00000483630.1:p.Ser620Arg
NM_001848.2:c.1866C>A , LRG_475t1:c.1866C>A NP_001839.2:p.Ser622Arg
NM_001848.3:c.1866C>A MANE Select NP_001839.2:p.Ser622Arg