Canonical Allele Identifier: CA645606014

Gene: COL6A1

Linked Data

• ClinVar Variation Id: 542973
• ClinVar RCV Id: RCV000653531
• dbSNP Id: rs886044511
• COSMIC: COSM5798747
• MyVariant Identifiers: chr21:g.47410745G>A (hg19) ; chr21:g.45990831G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45990831G>A , CM000683.2:g.45990831G>A	GRCh38
NC_000021.8:g.47410745G>A , CM000683.1:g.47410745G>A	GRCh37
NC_000021.7:g.46235173G>A	NCBI36
NG_008674.1:g.14083G>A , LRG_475:g.14083G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.1056+5G>A MANE Select	ENSP00000355180.3:n.1056+5G>A
ENST00000361866.7:c.1056+5G>A	ENSP00000355180.3:n.1056+5G>A
ENST00000612273.1:c.1056+5G>A	ENSP00000483630.1:n.1056+5G>A
NM_001848.2:c.1056+5G>A , LRG_475t1:c.1056+5G>A	NP_001839.2:n.1056+5G>A
NM_001848.3:c.1056+5G>A MANE Select	NP_001839.2:n.1056+5G>A