Canonical Allele Identifier: CA295779374

Gene: LAMA1

Linked Data

• dbSNP Id: rs960205988
• gnomAD v2: 18-7015562-A-G
• gnomAD v3: 18-7015563-A-G
• gnomAD v4: 18-7015563-A-G
• MyVariant Identifiers: chr18:g.7015562A>G (hg19) ; chr18:g.7015563A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.7015563A>G , CM000680.2:g.7015563A>G	GRCh38
NC_000018.9:g.7015562A>G , CM000680.1:g.7015562A>G	GRCh37
NC_000018.8:g.7005562A>G	NCBI36
NG_034251.1:g.107252T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389658.4:c.3126+159T>C MANE Select	ENSP00000374309.3:n.3126+159T>C
ENST00000389658.3:c.3126+159T>C	ENSP00000374309.3:n.3126+159T>C
ENST00000579014.5:n.4141+159T>C
NM_005559.3:c.3126+159T>C	NP_005550.2:n.3126+159T>C
XM_011525655.1:c.3126+159T>C	XP_011523957.1:n.3126+159T>C
XM_011525656.1:c.1554+159T>C	XP_011523958.1:n.1554+159T>C
XM_011525657.1:c.3126+159T>C	XP_011523959.1:n.3126+159T>C
XM_011525655.2:c.3126+159T>C	XP_011523957.1:n.3126+159T>C
XM_011525656.2:c.1554+159T>C	XP_011523958.1:n.1554+159T>C
NM_005559.4:c.3126+159T>C MANE Select	NP_005550.2:n.3126+159T>C