Canonical Allele Identifier: CA8882434

Gene: LAMA1

Linked Data

• dbSNP Id: rs760815994
• ExAC: 18:7015909 G / A
• gnomAD v2: 18-7015909-G-A
• gnomAD v3: 18-7015910-G-A
• gnomAD v4: 18-7015910-G-A
• MyVariant Identifiers: chr18:g.7015909G>A (hg19) ; chr18:g.7015910G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.7015910G>A , CM000680.2:g.7015910G>A	GRCh38
NC_000018.9:g.7015909G>A , CM000680.1:g.7015909G>A	GRCh37
NC_000018.8:g.7005909G>A	NCBI36
NG_034251.1:g.106905C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389658.4:c.2990-52C>T MANE Select	ENSP00000374309.3:n.2990-52C>T
ENST00000389658.3:c.2990-52C>T	ENSP00000374309.3:n.2990-52C>T
ENST00000579014.5:n.4005-52C>T
NM_005559.3:c.2990-52C>T	NP_005550.2:n.2990-52C>T
XM_011525655.1:c.2990-52C>T	XP_011523957.1:n.2990-52C>T
XM_011525656.1:c.1418-52C>T	XP_011523958.1:n.1418-52C>T
XM_011525657.1:c.2990-52C>T	XP_011523959.1:n.2990-52C>T
XM_011525655.2:c.2990-52C>T	XP_011523957.1:n.2990-52C>T
XM_011525656.2:c.1418-52C>T	XP_011523958.1:n.1418-52C>T
NM_005559.4:c.2990-52C>T MANE Select	NP_005550.2:n.2990-52C>T