Canonical Allele Identifier: CA502490291

Gene: LAMA1

Linked Data

• dbSNP Id: rs2057885146
• gnomAD v3: 18-7015818-T-C
• gnomAD v4: 18-7015818-T-C
• MyVariant Identifiers: chr18:g.7015817T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.7015818T>C , CM000680.2:g.7015818T>C	GRCh38
NC_000018.9:g.7015817T>C , CM000680.1:g.7015817T>C	GRCh37
NC_000018.8:g.7005817T>C	NCBI36
NG_034251.1:g.106997A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389658.4:c.3030A>G MANE Select	ENSP00000374309.3:p.Glu1010=
ENST00000389658.3:c.3030A>G	ENSP00000374309.3:p.Glu1010=
ENST00000579014.5:n.4045A>G
NM_005559.3:c.3030A>G	NP_005550.2:p.Glu1010=
XM_011525655.1:c.3030A>G	XP_011523957.1:p.Glu1010=
XM_011525656.1:c.1458A>G	XP_011523958.1:p.Glu486=
XM_011525657.1:c.3030A>G	XP_011523959.1:p.Glu1010=
XM_011525655.2:c.3030A>G	XP_011523957.1:p.Glu1010=
XM_011525656.2:c.1458A>G	XP_011523958.1:p.Glu486=
NM_005559.4:c.3030A>G MANE Select	NP_005550.2:p.Glu1010=