Canonical Allele Identifier: CA8881645

Gene: LAMA1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.6986228G>A , CM000680.2:g.6986228G>A	GRCh38
NC_000018.9:g.6986227G>A , CM000680.1:g.6986227G>A	GRCh37
NC_000018.8:g.6976227G>A	NCBI36
NG_034251.1:g.136587C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_005559.4:c.5288C>T MANE Select	NP_005550.2:p.Ala1763Val
ENST00000389658.4:c.5288C>T MANE Select	ENSP00000374309.3:p.Ala1763Val
NM_005559.3:c.5288C>T	NP_005550.2:p.Ala1763Val
ENST00000389658.3:c.5288C>T	ENSP00000374309.3:p.Ala1763Val
ENST00000579014.5:n.6303C>T
XM_011525655.1:c.5288C>T	XP_011523957.1:p.Ala1763Val
XM_011525655.2:c.5288C>T	XP_011523957.1:p.Ala1763Val
XM_011525656.1:c.3716C>T	XP_011523958.1:p.Ala1239Val
XM_011525656.2:c.3716C>T	XP_011523958.1:p.Ala1239Val
XM_011525657.1:c.5288C>T	XP_011523959.1:p.Ala1763Val