Canonical Allele Identifier: CA401850394

Gene: LAMA1

Linked Data

• MyVariant Identifiers: chr18:g.7015721C>A (hg19) ; chr18:g.7015722C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.7015722C>A , CM000680.2:g.7015722C>A	GRCh38
NC_000018.9:g.7015721C>A , CM000680.1:g.7015721C>A	GRCh37
NC_000018.8:g.7005721C>A	NCBI36
NG_034251.1:g.107093G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389658.4:c.3126G>T MANE Select	ENSP00000374309.3:p.Gln1042His
ENST00000389658.3:c.3126G>T	ENSP00000374309.3:p.Gln1042His
ENST00000579014.5:n.4141G>T
NM_005559.3:c.3126G>T	NP_005550.2:p.Gln1042His
XM_011525655.1:c.3126G>T	XP_011523957.1:p.Gln1042His
XM_011525656.1:c.1554G>T	XP_011523958.1:p.Gln518His
XM_011525657.1:c.3126G>T	XP_011523959.1:p.Gln1042His
XM_011525655.2:c.3126G>T	XP_011523957.1:p.Gln1042His
XM_011525656.2:c.1554G>T	XP_011523958.1:p.Gln518His
NM_005559.4:c.3126G>T MANE Select	NP_005550.2:p.Gln1042His