Canonical Allele Identifier: CA401836250
Gene: LAMA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.7042174T>C , CM000680.2:g.7042174T>C GRCh38
NC_000018.9:g.7042173T>C , CM000680.1:g.7042173T>C GRCh37
NC_000018.8:g.7032173T>C NCBI36
NG_034251.1:g.80641A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000389658.4:c.1232A>G MANE Select ENSP00000374309.3:p.Lys411Arg
ENST00000389658.3:c.1232A>G ENSP00000374309.3:p.Lys411Arg
ENST00000579014.5:n.2247A>G
NM_005559.3:c.1232A>G NP_005550.2:p.Lys411Arg
XM_011525655.1:c.1232A>G XP_011523957.1:p.Lys411Arg
XM_011525657.1:c.1232A>G XP_011523959.1:p.Lys411Arg
XM_011525655.2:c.1232A>G XP_011523957.1:p.Lys411Arg
NM_005559.4:c.1232A>G MANE Select NP_005550.2:p.Lys411Arg