Canonical Allele Identifier: CA2640921716

Gene: LAMA1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.7025974C>A , CM000680.2:g.7025974C>A	GRCh38
NC_000018.9:g.7025973C>A , CM000680.1:g.7025973C>A	GRCh37
NC_000018.8:g.7015973C>A	NCBI36
NG_034251.1:g.96841G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_005559.4:c.2402+5G>T MANE Select	NP_005550.2:n.2402+5G>T
ENST00000389658.4:c.2402+5G>T MANE Select	ENSP00000374309.3:n.2402+5G>T
NM_005559.3:c.2402+5G>T	NP_005550.2:n.2402+5G>T
ENST00000389658.3:c.2402+5G>T	ENSP00000374309.3:n.2402+5G>T
ENST00000579014.5:n.3417+5G>T
XM_011525655.1:c.2402+5G>T	XP_011523957.1:n.2402+5G>T
XM_011525655.2:c.2402+5G>T	XP_011523957.1:n.2402+5G>T
XM_011525656.1:c.830+5G>T	XP_011523958.1:n.830+5G>T
XM_011525656.2:c.830+5G>T	XP_011523958.1:n.830+5G>T
XM_011525657.1:c.2402+5G>T	XP_011523959.1:n.2402+5G>T