Canonical Allele Identifier: CA502490122

Gene: LAMA1

Linked Data

• dbSNP Id: rs2057884774
• MyVariant Identifiers: chr18:g.7015766T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.7015767T>C , CM000680.2:g.7015767T>C	GRCh38
NC_000018.9:g.7015766T>C , CM000680.1:g.7015766T>C	GRCh37
NC_000018.8:g.7005766T>C	NCBI36
NG_034251.1:g.107048A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389658.4:c.3081A>G MANE Select	ENSP00000374309.3:p.Glu1027=
ENST00000389658.3:c.3081A>G	ENSP00000374309.3:p.Glu1027=
ENST00000579014.5:n.4096A>G
NM_005559.3:c.3081A>G	NP_005550.2:p.Glu1027=
XM_011525655.1:c.3081A>G	XP_011523957.1:p.Glu1027=
XM_011525656.1:c.1509A>G	XP_011523958.1:p.Glu503=
XM_011525657.1:c.3081A>G	XP_011523959.1:p.Glu1027=
XM_011525655.2:c.3081A>G	XP_011523957.1:p.Glu1027=
XM_011525656.2:c.1509A>G	XP_011523958.1:p.Glu503=
NM_005559.4:c.3081A>G MANE Select	NP_005550.2:p.Glu1027=