Canonical Allele Identifier: CA512718605

Gene: COL6A1

Linked Data

• MyVariant Identifiers: chr21:g.47421207C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46001293C>T , CM000683.2:g.46001293C>T	GRCh38
NC_000021.8:g.47421207C>T , CM000683.1:g.47421207C>T	GRCh37
NC_000021.7:g.46245635C>T	NCBI36
NG_008674.1:g.24545C>T , LRG_475:g.24545C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463060.6:n.262C>T
ENST00000361866.8:c.1863C>T MANE Select	ENSP00000355180.3:p.Asp621=
ENST00000361866.7:c.1863C>T	ENSP00000355180.3:p.Asp621=
ENST00000463060.5:n.262C>T
ENST00000498614.5:n.97C>T
ENST00000612273.1:c.1857C>T	ENSP00000483630.1:p.Asp619=
NM_001848.2:c.1863C>T , LRG_475t1:c.1863C>T	NP_001839.2:p.Asp621=
NM_001848.3:c.1863C>T MANE Select	NP_001839.2:p.Asp621=