Canonical Allele Identifier: CA8882409

Gene: LAMA1

Linked Data

• dbSNP Id: rs762727664
• ExAC: 18:7015753 G / A
• gnomAD v2: 18-7015753-G-A
• gnomAD v3: 18-7015754-G-A
• gnomAD v4: 18-7015754-G-A
• MyVariant Identifiers: chr18:g.7015753G>A (hg19) ; chr18:g.7015754G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.7015754G>A , CM000680.2:g.7015754G>A	GRCh38
NC_000018.9:g.7015753G>A , CM000680.1:g.7015753G>A	GRCh37
NC_000018.8:g.7005753G>A	NCBI36
NG_034251.1:g.107061C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389658.4:c.3094C>T MANE Select	ENSP00000374309.3:p.His1032Tyr
ENST00000389658.3:c.3094C>T	ENSP00000374309.3:p.His1032Tyr
ENST00000579014.5:n.4109C>T
NM_005559.3:c.3094C>T	NP_005550.2:p.His1032Tyr
XM_011525655.1:c.3094C>T	XP_011523957.1:p.His1032Tyr
XM_011525656.1:c.1522C>T	XP_011523958.1:p.His508Tyr
XM_011525657.1:c.3094C>T	XP_011523959.1:p.His1032Tyr
XM_011525655.2:c.3094C>T	XP_011523957.1:p.His1032Tyr
XM_011525656.2:c.1522C>T	XP_011523958.1:p.His508Tyr
NM_005559.4:c.3094C>T MANE Select	NP_005550.2:p.His1032Tyr