Canonical Allele Identifier: CA401850453

Gene: LAMA1

Linked Data

• dbSNP Id: rs1383576206
• gnomAD v2: 18-7015749-C-G
• MyVariant Identifiers: chr18:g.7015749C>G (hg19) ; chr18:g.7015750C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.7015750C>G , CM000680.2:g.7015750C>G	GRCh38
NC_000018.9:g.7015749C>G , CM000680.1:g.7015749C>G	GRCh37
NC_000018.8:g.7005749C>G	NCBI36
NG_034251.1:g.107065G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389658.4:c.3098G>C MANE Select	ENSP00000374309.3:p.Trp1033Ser
ENST00000389658.3:c.3098G>C	ENSP00000374309.3:p.Trp1033Ser
ENST00000579014.5:n.4113G>C
NM_005559.3:c.3098G>C	NP_005550.2:p.Trp1033Ser
XM_011525655.1:c.3098G>C	XP_011523957.1:p.Trp1033Ser
XM_011525656.1:c.1526G>C	XP_011523958.1:p.Trp509Ser
XM_011525657.1:c.3098G>C	XP_011523959.1:p.Trp1033Ser
XM_011525655.2:c.3098G>C	XP_011523957.1:p.Trp1033Ser
XM_011525656.2:c.1526G>C	XP_011523958.1:p.Trp509Ser
NM_005559.4:c.3098G>C MANE Select	NP_005550.2:p.Trp1033Ser