Canonical Allele Identifier: CA8882414

Gene: LAMA1

Linked Data

• dbSNP Id: rs767646512
• ExAC: 18:7015794 G / C
• gnomAD v2: 18-7015794-G-C
• gnomAD v4: 18-7015795-G-C
• MyVariant Identifiers: chr18:g.7015794G>C (hg19) ; chr18:g.7015795G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.7015795G>C , CM000680.2:g.7015795G>C	GRCh38
NC_000018.9:g.7015794G>C , CM000680.1:g.7015794G>C	GRCh37
NC_000018.8:g.7005794G>C	NCBI36
NG_034251.1:g.107020C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389658.4:c.3053C>G MANE Select	ENSP00000374309.3:p.Pro1018Arg
ENST00000389658.3:c.3053C>G	ENSP00000374309.3:p.Pro1018Arg
ENST00000579014.5:n.4068C>G
NM_005559.3:c.3053C>G	NP_005550.2:p.Pro1018Arg
XM_011525655.1:c.3053C>G	XP_011523957.1:p.Pro1018Arg
XM_011525656.1:c.1481C>G	XP_011523958.1:p.Pro494Arg
XM_011525657.1:c.3053C>G	XP_011523959.1:p.Pro1018Arg
XM_011525655.2:c.3053C>G	XP_011523957.1:p.Pro1018Arg
XM_011525656.2:c.1481C>G	XP_011523958.1:p.Pro494Arg
NM_005559.4:c.3053C>G MANE Select	NP_005550.2:p.Pro1018Arg