Canonical Allele Identifier: CA221748

Gene: COL6A1

Linked Data

• ClinVar Variation Id: 17174
• ClinVar RCV Id: RCV000626814 ; RCV001813996 ; RCV000018714 ; RCV000079739
• dbSNP Id: rs398123631
• MyVariant Identifiers: chr21:g.47410741G>A (hg19) ; chr21:g.45990827G>A (hg38)
• PubMed: PMID:10419498 ; PMID:12840783 ; PMID:15955946 ; PMID:17886299 ; PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45990827G>A , CM000683.2:g.45990827G>A	GRCh38
NC_000021.8:g.47410741G>A , CM000683.1:g.47410741G>A	GRCh37
NC_000021.7:g.46235169G>A	NCBI36
NG_008674.1:g.14079G>A , LRG_475:g.14079G>A

Transcript Alleles

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