Canonical Allele Identifier: CA502473545

Gene: LAMA1

Linked Data

• MyVariant Identifiers: chr18:g.7042166G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.7042167G>A , CM000680.2:g.7042167G>A	GRCh38
NC_000018.9:g.7042166G>A , CM000680.1:g.7042166G>A	GRCh37
NC_000018.8:g.7032166G>A	NCBI36
NG_034251.1:g.80648C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000389658.4:c.1239C>T MANE Select	ENSP00000374309.3:p.Asp413=
ENST00000389658.3:c.1239C>T	ENSP00000374309.3:p.Asp413=
ENST00000579014.5:n.2254C>T
NM_005559.3:c.1239C>T	NP_005550.2:p.Asp413=
XM_011525655.1:c.1239C>T	XP_011523957.1:p.Asp413=
XM_011525657.1:c.1239C>T	XP_011523959.1:p.Asp413=
XM_011525655.2:c.1239C>T	XP_011523957.1:p.Asp413=
NM_005559.4:c.1239C>T MANE Select	NP_005550.2:p.Asp413=