Canonical Allele Identifier: CA410533535
Gene: COL6A1 HGNC NCBI

Linked Data

dbSNP Id: rs1603593945

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.46001331C>T , CM000683.2:g.46001331C>T GRCh38
NC_000021.8:g.47421245C>T , CM000683.1:g.47421245C>T GRCh37
NC_000021.7:g.46245673C>T NCBI36
NG_008674.1:g.24583C>T , LRG_475:g.24583C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000463060.6:n.300C>T
ENST00000612273.2:c.27C>T
ENST00000682634.1:c.27C>T
ENST00000361866.8:c.1901C>T MANE Select ENSP00000355180.3:p.Ala634Val
ENST00000361866.7:c.1901C>T ENSP00000355180.3:p.Ala634Val
ENST00000463060.5:n.300C>T
ENST00000498614.5:n.135C>T
ENST00000612273.1:c.1895C>T ENSP00000483630.1:p.Ala632Val
NM_001848.2:c.1901C>T , LRG_475t1:c.1901C>T NP_001839.2:p.Ala634Val
NM_001848.3:c.1901C>T MANE Select NP_001839.2:p.Ala634Val