Canonical Allele Identifier: CA781976291

Gene: LAMA1

Linked Data

• dbSNP Id: rs1178246073
• gnomAD v3: 18-7015565-C-T
• gnomAD v4: 18-7015565-C-T
• MyVariant Identifiers: chr18:g.7015564C>T (hg19) ; chr18:g.7015565C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.7015565C>T , CM000680.2:g.7015565C>T	GRCh38
NC_000018.9:g.7015564C>T , CM000680.1:g.7015564C>T	GRCh37
NC_000018.8:g.7005564C>T	NCBI36
NG_034251.1:g.107250G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000389658.4:c.3126+157G>A MANE Select	ENSP00000374309.3:n.3126+157G>A
ENST00000389658.3:c.3126+157G>A	ENSP00000374309.3:n.3126+157G>A
ENST00000579014.5:n.4141+157G>A
NM_005559.3:c.3126+157G>A	NP_005550.2:n.3126+157G>A
XM_011525655.1:c.3126+157G>A	XP_011523957.1:n.3126+157G>A
XM_011525656.1:c.1554+157G>A	XP_011523958.1:n.1554+157G>A
XM_011525657.1:c.3126+157G>A	XP_011523959.1:n.3126+157G>A
XM_011525655.2:c.3126+157G>A	XP_011523957.1:n.3126+157G>A
XM_011525656.2:c.1554+157G>A	XP_011523958.1:n.1554+157G>A
NM_005559.4:c.3126+157G>A MANE Select	NP_005550.2:n.3126+157G>A