Canonical Allele Identifier: CA401850493

Gene: LAMA1

Linked Data

• MyVariant Identifiers: chr18:g.7015767T>A (hg19) ; chr18:g.7015768T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.7015768T>A , CM000680.2:g.7015768T>A	GRCh38
NC_000018.9:g.7015767T>A , CM000680.1:g.7015767T>A	GRCh37
NC_000018.8:g.7005767T>A	NCBI36
NG_034251.1:g.107047A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389658.4:c.3080A>T MANE Select	ENSP00000374309.3:p.Glu1027Val
ENST00000389658.3:c.3080A>T	ENSP00000374309.3:p.Glu1027Val
ENST00000579014.5:n.4095A>T
NM_005559.3:c.3080A>T	NP_005550.2:p.Glu1027Val
XM_011525655.1:c.3080A>T	XP_011523957.1:p.Glu1027Val
XM_011525656.1:c.1508A>T	XP_011523958.1:p.Glu503Val
XM_011525657.1:c.3080A>T	XP_011523959.1:p.Glu1027Val
XM_011525655.2:c.3080A>T	XP_011523957.1:p.Glu1027Val
XM_011525656.2:c.1508A>T	XP_011523958.1:p.Glu503Val
NM_005559.4:c.3080A>T MANE Select	NP_005550.2:p.Glu1027Val