Canonical Allele Identifier: CA2640920066

Gene: LAMA1

Linked Data

• gnomAD v4: 18-7015583-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.7015583A>C , CM000680.2:g.7015583A>C	GRCh38
NC_000018.9:g.7015582A>C , CM000680.1:g.7015582A>C	GRCh37
NC_000018.8:g.7005582A>C	NCBI36
NG_034251.1:g.107232T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000389658.4:c.3126+139T>G MANE Select	ENSP00000374309.3:n.3126+139T>G
ENST00000389658.3:c.3126+139T>G	ENSP00000374309.3:n.3126+139T>G
ENST00000579014.5:n.4141+139T>G
NM_005559.3:c.3126+139T>G	NP_005550.2:n.3126+139T>G
XM_011525655.1:c.3126+139T>G	XP_011523957.1:n.3126+139T>G
XM_011525656.1:c.1554+139T>G	XP_011523958.1:n.1554+139T>G
XM_011525657.1:c.3126+139T>G	XP_011523959.1:n.3126+139T>G
XM_011525655.2:c.3126+139T>G	XP_011523957.1:n.3126+139T>G
XM_011525656.2:c.1554+139T>G	XP_011523958.1:n.1554+139T>G
NM_005559.4:c.3126+139T>G MANE Select	NP_005550.2:n.3126+139T>G