Canonical Allele Identifier: CA502473514

Gene: LAMA1

Linked Data

• dbSNP Id: rs1230872741
• gnomAD v2: 18-7042163-G-A
• COSMIC: COSM3527471
• MyVariant Identifiers: chr18:g.7042163G>A (hg19) ; chr18:g.7042164G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.7042164G>A , CM000680.2:g.7042164G>A	GRCh38
NC_000018.9:g.7042163G>A , CM000680.1:g.7042163G>A	GRCh37
NC_000018.8:g.7032163G>A	NCBI36
NG_034251.1:g.80651C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000389658.4:c.1242C>T MANE Select	ENSP00000374309.3:p.Leu414=
ENST00000389658.3:c.1242C>T	ENSP00000374309.3:p.Leu414=
ENST00000579014.5:n.2257C>T
NM_005559.3:c.1242C>T	NP_005550.2:p.Leu414=
XM_011525655.1:c.1242C>T	XP_011523957.1:p.Leu414=
XM_011525657.1:c.1242C>T	XP_011523959.1:p.Leu414=
XM_011525655.2:c.1242C>T	XP_011523957.1:p.Leu414=
NM_005559.4:c.1242C>T MANE Select	NP_005550.2:p.Leu414=