Canonical Allele Identifier: CA410533589
Gene: COL6A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.46001341C>G , CM000683.2:g.46001341C>G GRCh38
NC_000021.8:g.47421255C>G , CM000683.1:g.47421255C>G GRCh37
NC_000021.7:g.46245683C>G NCBI36
NG_008674.1:g.24593C>G , LRG_475:g.24593C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000463060.6:n.310C>G
ENST00000612273.2:c.37C>G
ENST00000682634.1:c.37C>G
ENST00000361866.8:c.1911C>G MANE Select ENSP00000355180.3:p.Phe637Leu
ENST00000361866.7:c.1911C>G ENSP00000355180.3:p.Phe637Leu
ENST00000463060.5:n.310C>G
ENST00000498614.5:n.145C>G
ENST00000612273.1:c.1905C>G ENSP00000483630.1:p.Phe635Leu
NM_001848.2:c.1911C>G , LRG_475t1:c.1911C>G NP_001839.2:p.Phe637Leu
NM_001848.3:c.1911C>G MANE Select NP_001839.2:p.Phe637Leu