Canonical Allele Identifier: CA410533277
Gene: COL6A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.46001295G>T , CM000683.2:g.46001295G>T GRCh38
NC_000021.8:g.47421209G>T , CM000683.1:g.47421209G>T GRCh37
NC_000021.7:g.46245637G>T NCBI36
NG_008674.1:g.24547G>T , LRG_475:g.24547G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000463060.6:n.264G>T
ENST00000361866.8:c.1865G>T MANE Select ENSP00000355180.3:p.Ser622Ile
ENST00000361866.7:c.1865G>T ENSP00000355180.3:p.Ser622Ile
ENST00000463060.5:n.264G>T
ENST00000498614.5:n.99G>T
ENST00000612273.1:c.1859G>T ENSP00000483630.1:p.Ser620Ile
NM_001848.2:c.1865G>T , LRG_475t1:c.1865G>T NP_001839.2:p.Ser622Ile
NM_001848.3:c.1865G>T MANE Select NP_001839.2:p.Ser622Ile