Canonical Allele Identifier: CA8880904

Gene: LAMA1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.6961951T>C , CM000680.2:g.6961951T>C	GRCh38
NC_000018.9:g.6961950T>C , CM000680.1:g.6961950T>C	GRCh37
NC_000018.8:g.6951950T>C	NCBI36
NG_034251.1:g.160864A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_005559.4:c.7446A>G MANE Select	NP_005550.2:p.Leu2482=
ENST00000389658.4:c.7446A>G MANE Select	ENSP00000374309.3:p.Leu2482=
NM_005559.3:c.7446A>G	NP_005550.2:p.Leu2482=
ENST00000389658.3:c.7446A>G	ENSP00000374309.3:p.Leu2482=
ENST00000488064.5:n.920A>G
ENST00000579014.5:n.8461A>G
ENST00000638611.1:c.-196A>G	ENSP00000491821.1:n.-196A>G
XM_011525655.1:c.7446A>G	XP_011523957.1:p.Leu2482=
XM_011525655.2:c.7446A>G	XP_011523957.1:p.Leu2482=
XM_011525656.1:c.5874A>G	XP_011523958.1:p.Leu1958=
XM_011525656.2:c.5874A>G	XP_011523958.1:p.Leu1958=
XM_011525657.1:c.7446A>G	XP_011523959.1:p.Leu2482=