Canonical Allele Identifier: CA410533288
Gene: COL6A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.46001297T>C , CM000683.2:g.46001297T>C GRCh38
NC_000021.8:g.47421211T>C , CM000683.1:g.47421211T>C GRCh37
NC_000021.7:g.46245639T>C NCBI36
NG_008674.1:g.24549T>C , LRG_475:g.24549T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000463060.6:n.266T>C
ENST00000361866.8:c.1867T>C MANE Select ENSP00000355180.3:p.Ser623Pro
ENST00000361866.7:c.1867T>C ENSP00000355180.3:p.Ser623Pro
ENST00000463060.5:n.266T>C
ENST00000498614.5:n.101T>C
ENST00000612273.1:c.1861T>C ENSP00000483630.1:p.Ser621Pro
NM_001848.2:c.1867T>C , LRG_475t1:c.1867T>C NP_001839.2:p.Ser623Pro
NM_001848.3:c.1867T>C MANE Select NP_001839.2:p.Ser623Pro