Canonical Allele Identifier: CA781966521

Gene: LAMA1

Linked Data

• dbSNP Id: rs1361164976
• gnomAD v3: 18-7042069-A-G
• gnomAD v4: 18-7042069-A-G
• MyVariant Identifiers: chr18:g.7042068A>G (hg19) ; chr18:g.7042069A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.7042069A>G , CM000680.2:g.7042069A>G	GRCh38
NC_000018.9:g.7042068A>G , CM000680.1:g.7042068A>G	GRCh37
NC_000018.8:g.7032068A>G	NCBI36
NG_034251.1:g.80746T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000389658.4:c.1261+76T>C MANE Select	ENSP00000374309.3:n.1261+76T>C
ENST00000389658.3:c.1261+76T>C	ENSP00000374309.3:n.1261+76T>C
ENST00000579014.5:n.2276+76T>C
NM_005559.3:c.1261+76T>C	NP_005550.2:n.1261+76T>C
XM_011525655.1:c.1261+76T>C	XP_011523957.1:n.1261+76T>C
XM_011525657.1:c.1261+76T>C	XP_011523959.1:n.1261+76T>C
XM_011525655.2:c.1261+76T>C	XP_011523957.1:n.1261+76T>C
NM_005559.4:c.1261+76T>C MANE Select	NP_005550.2:n.1261+76T>C