Canonical Allele Identifier: CA410528670

Gene: COL6A1

Linked Data

• gnomAD v4: 21-45997707-G-T
• MyVariant Identifiers: chr21:g.47417621G>T (hg19) ; chr21:g.45997707G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45997707G>T , CM000683.2:g.45997707G>T	GRCh38
NC_000021.8:g.47417621G>T , CM000683.1:g.47417621G>T	GRCh37
NC_000021.7:g.46242049G>T	NCBI36
NG_008674.1:g.20959G>T , LRG_475:g.20959G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000683550.1:n.244G>T
ENST00000361866.8:c.1469G>T MANE Select	ENSP00000355180.3:p.Arg490Ile
ENST00000361866.7:c.1469G>T	ENSP00000355180.3:p.Arg490Ile
ENST00000612273.1:c.1469G>T	ENSP00000483630.1:p.Arg490Ile
NM_001848.2:c.1469G>T , LRG_475t1:c.1469G>T	NP_001839.2:p.Arg490Ile
NM_001848.3:c.1469G>T MANE Select	NP_001839.2:p.Arg490Ile