Canonical Allele Identifier: CA321975650

Gene: COL6A1

Linked Data

• dbSNP Id: rs577302518
• gnomAD v2: 21-47421355-G-A
• gnomAD v3: 21-46001441-G-A
• gnomAD v4: 21-46001441-G-A
• MyVariant Identifiers: chr21:g.47421355G>A (hg19) ; chr21:g.46001441G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46001441G>A , CM000683.2:g.46001441G>A	GRCh38
NC_000021.8:g.47421355G>A , CM000683.1:g.47421355G>A	GRCh37
NC_000021.7:g.46245783G>A	NCBI36
NG_008674.1:g.24693G>A , LRG_475:g.24693G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463060.6:n.355+55G>A
ENST00000612273.2:c.82+55G>A
ENST00000682634.1:c.82+55G>A
ENST00000361866.8:c.1956+55G>A MANE Select	ENSP00000355180.3:n.1956+55G>A
ENST00000361866.7:c.1956+55G>A	ENSP00000355180.3:n.1956+55G>A
ENST00000463060.5:n.355+55G>A
ENST00000498614.5:n.190+55G>A
ENST00000612273.1:c.1950+55G>A	ENSP00000483630.1:n.1950+55G>A
NM_001848.2:c.1956+55G>A , LRG_475t1:c.1956+55G>A	NP_001839.2:n.1956+55G>A
NM_001848.3:c.1956+55G>A MANE Select	NP_001839.2:n.1956+55G>A