Canonical Allele Identifier: CA221786

Gene: COL6A1

Linked Data

• ClinVar Variation Id: 17173
• ClinVar RCV Id: RCV000018713 ; RCV000177135
• dbSNP Id: rs121912936
• gnomAD v4: 21-45984403-A-G
• MyVariant Identifiers: chr21:g.47404317A>G (hg19) ; chr21:g.45984403A>G (hg38)
• PubMed: PMID:11865138 ; PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45984403A>G , CM000683.2:g.45984403A>G	GRCh38
NC_000021.8:g.47404317A>G , CM000683.1:g.47404317A>G	GRCh37
NC_000021.7:g.46228745A>G	NCBI36
NG_008674.1:g.7655A>G , LRG_475:g.7655A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.362A>G MANE Select	ENSP00000355180.3:p.Lys121Arg
ENST00000361866.7:c.362A>G	ENSP00000355180.3:p.Lys121Arg
ENST00000612273.1:c.362A>G	ENSP00000483630.1:p.Lys121Arg
NM_001848.2:c.362A>G , LRG_475t1:c.362A>G	NP_001839.2:p.Lys121Arg
NM_001848.3:c.362A>G MANE Select	NP_001839.2:p.Lys121Arg