Canonical Allele Identifier: CA8882398

Gene: LAMA1

Linked Data

• dbSNP Id: rs756630470
• ExAC: 18:7015728 C / T
• gnomAD v2: 18-7015728-C-T
• gnomAD v4: 18-7015729-C-T
• MyVariant Identifiers: chr18:g.7015728C>T (hg19) ; chr18:g.7015729C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.7015729C>T , CM000680.2:g.7015729C>T	GRCh38
NC_000018.9:g.7015728C>T , CM000680.1:g.7015728C>T	GRCh37
NC_000018.8:g.7005728C>T	NCBI36
NG_034251.1:g.107086G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389658.4:c.3119G>A MANE Select	ENSP00000374309.3:p.Gly1040Glu
ENST00000389658.3:c.3119G>A	ENSP00000374309.3:p.Gly1040Glu
ENST00000579014.5:n.4134G>A
NM_005559.3:c.3119G>A	NP_005550.2:p.Gly1040Glu
XM_011525655.1:c.3119G>A	XP_011523957.1:p.Gly1040Glu
XM_011525656.1:c.1547G>A	XP_011523958.1:p.Gly516Glu
XM_011525657.1:c.3119G>A	XP_011523959.1:p.Gly1040Glu
XM_011525655.2:c.3119G>A	XP_011523957.1:p.Gly1040Glu
XM_011525656.2:c.1547G>A	XP_011523958.1:p.Gly516Glu
NM_005559.4:c.3119G>A MANE Select	NP_005550.2:p.Gly1040Glu