Canonical Allele Identifier: CA410516444

Gene: COL6A1

Linked Data

• gnomAD v4: 21-45984465-G-T
• MyVariant Identifiers: chr21:g.47404379G>T (hg19) ; chr21:g.45984465G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45984465G>T , CM000683.2:g.45984465G>T	GRCh38
NC_000021.8:g.47404379G>T , CM000683.1:g.47404379G>T	GRCh37
NC_000021.7:g.46228807G>T	NCBI36
NG_008674.1:g.7717G>T , LRG_475:g.7717G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.424G>T MANE Select	ENSP00000355180.3:p.Val142Leu
ENST00000361866.7:c.424G>T	ENSP00000355180.3:p.Val142Leu
ENST00000612273.1:c.424G>T	ENSP00000483630.1:p.Val142Leu
NM_001848.2:c.424G>T , LRG_475t1:c.424G>T	NP_001839.2:p.Val142Leu
NM_001848.3:c.424G>T MANE Select	NP_001839.2:p.Val142Leu