Canonical Allele Identifier: CA8882405

Gene: LAMA1

Linked Data

• dbSNP Id: rs776072436
• ExAC: 18:7015746 C / A
• gnomAD v2: 18-7015746-C-A
• gnomAD v3: 18-7015747-C-A
• gnomAD v4: 18-7015747-C-A
• MyVariant Identifiers: chr18:g.7015746C>A (hg19) ; chr18:g.7015747C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.7015747C>A , CM000680.2:g.7015747C>A	GRCh38
NC_000018.9:g.7015746C>A , CM000680.1:g.7015746C>A	GRCh37
NC_000018.8:g.7005746C>A	NCBI36
NG_034251.1:g.107068G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389658.4:c.3101G>T MANE Select	ENSP00000374309.3:p.Gly1034Val
ENST00000389658.3:c.3101G>T	ENSP00000374309.3:p.Gly1034Val
ENST00000579014.5:n.4116G>T
NM_005559.3:c.3101G>T	NP_005550.2:p.Gly1034Val
XM_011525655.1:c.3101G>T	XP_011523957.1:p.Gly1034Val
XM_011525656.1:c.1529G>T	XP_011523958.1:p.Gly510Val
XM_011525657.1:c.3101G>T	XP_011523959.1:p.Gly1034Val
XM_011525655.2:c.3101G>T	XP_011523957.1:p.Gly1034Val
XM_011525656.2:c.1529G>T	XP_011523958.1:p.Gly510Val
NM_005559.4:c.3101G>T MANE Select	NP_005550.2:p.Gly1034Val