Canonical Allele Identifier: CA502490190

Gene: LAMA1

Linked Data

• MyVariant Identifiers: chr18:g.7015787T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.7015788T>G , CM000680.2:g.7015788T>G	GRCh38
NC_000018.9:g.7015787T>G , CM000680.1:g.7015787T>G	GRCh37
NC_000018.8:g.7005787T>G	NCBI36
NG_034251.1:g.107027A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389658.4:c.3060A>C MANE Select	ENSP00000374309.3:p.Thr1020=
ENST00000389658.3:c.3060A>C	ENSP00000374309.3:p.Thr1020=
ENST00000579014.5:n.4075A>C
NM_005559.3:c.3060A>C	NP_005550.2:p.Thr1020=
XM_011525655.1:c.3060A>C	XP_011523957.1:p.Thr1020=
XM_011525656.1:c.1488A>C	XP_011523958.1:p.Thr496=
XM_011525657.1:c.3060A>C	XP_011523959.1:p.Thr1020=
XM_011525655.2:c.3060A>C	XP_011523957.1:p.Thr1020=
XM_011525656.2:c.1488A>C	XP_011523958.1:p.Thr496=
NM_005559.4:c.3060A>C MANE Select	NP_005550.2:p.Thr1020=