Canonical Allele Identifier: CA502473562

Gene: LAMA1

Linked Data

• MyVariant Identifiers: chr18:g.7042169A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.7042170A>G , CM000680.2:g.7042170A>G	GRCh38
NC_000018.9:g.7042169A>G , CM000680.1:g.7042169A>G	GRCh37
NC_000018.8:g.7032169A>G	NCBI36
NG_034251.1:g.80645T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000389658.4:c.1236T>C MANE Select	ENSP00000374309.3:p.Asp412=
ENST00000389658.3:c.1236T>C	ENSP00000374309.3:p.Asp412=
ENST00000579014.5:n.2251T>C
NM_005559.3:c.1236T>C	NP_005550.2:p.Asp412=
XM_011525655.1:c.1236T>C	XP_011523957.1:p.Asp412=
XM_011525657.1:c.1236T>C	XP_011523959.1:p.Asp412=
XM_011525655.2:c.1236T>C	XP_011523957.1:p.Asp412=
NM_005559.4:c.1236T>C MANE Select	NP_005550.2:p.Asp412=