Canonical Allele Identifier: CA749841506

Gene: COL6A1

Linked Data

• dbSNP Id: rs760304723
• gnomAD v4: 21-46001213-G-T
• MyVariant Identifiers: chr21:g.47421127G>T (hg19) ; chr21:g.46001213G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46001213G>T , CM000683.2:g.46001213G>T	GRCh38
NC_000021.8:g.47421127G>T , CM000683.1:g.47421127G>T	GRCh37
NC_000021.7:g.46245555G>T	NCBI36
NG_008674.1:g.24465G>T , LRG_475:g.24465G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463060.6:n.222-40G>T
ENST00000361866.8:c.1823-40G>T MANE Select	ENSP00000355180.3:n.1823-40G>T
ENST00000361866.7:c.1823-40G>T	ENSP00000355180.3:n.1823-40G>T
ENST00000463060.5:n.222-40G>T
ENST00000498614.5:n.17G>T
ENST00000612273.1:c.1817-40G>T	ENSP00000483630.1:n.1817-40G>T
NM_001848.2:c.1823-40G>T , LRG_475t1:c.1823-40G>T	NP_001839.2:n.1823-40G>T
NM_001848.3:c.1823-40G>T MANE Select	NP_001839.2:n.1823-40G>T