Canonical Allele Identifier: CA401850535

Gene: LAMA1

Linked Data

• ClinVar Variation Id: 2544006
• ClinVar RCV Id: RCV003272238
• gnomAD v4: 18-7015785-C-G
• MyVariant Identifiers: chr18:g.7015784C>G (hg19) ; chr18:g.7015785C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.7015785C>G , CM000680.2:g.7015785C>G	GRCh38
NC_000018.9:g.7015784C>G , CM000680.1:g.7015784C>G	GRCh37
NC_000018.8:g.7005784C>G	NCBI36
NG_034251.1:g.107030G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389658.4:c.3063G>C MANE Select	ENSP00000374309.3:p.Gln1021His
ENST00000389658.3:c.3063G>C	ENSP00000374309.3:p.Gln1021His
ENST00000579014.5:n.4078G>C
NM_005559.3:c.3063G>C	NP_005550.2:p.Gln1021His
XM_011525655.1:c.3063G>C	XP_011523957.1:p.Gln1021His
XM_011525656.1:c.1491G>C	XP_011523958.1:p.Gln497His
XM_011525657.1:c.3063G>C	XP_011523959.1:p.Gln1021His
XM_011525655.2:c.3063G>C	XP_011523957.1:p.Gln1021His
XM_011525656.2:c.1491G>C	XP_011523958.1:p.Gln497His
NM_005559.4:c.3063G>C MANE Select	NP_005550.2:p.Gln1021His