Canonical Allele Identifier: CA401836252
Gene: LAMA1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr18:g.7042173T>G (hg19) chr18:g.7042174T>G (hg38)
JSON-LD

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000389658.4:c.1232A>C MANE Select ENSP00000374309.3:p.Lys411Thr
ENST00000389658.3:c.1232A>C ENSP00000374309.3:p.Lys411Thr
ENST00000579014.5:n.2247A>C
NM_005559.3:c.1232A>C NP_005550.2:p.Lys411Thr
XM_011525655.1:c.1232A>C XP_011523957.1:p.Lys411Thr
XM_011525657.1:c.1232A>C XP_011523959.1:p.Lys411Thr
XM_011525655.2:c.1232A>C XP_011523957.1:p.Lys411Thr
NM_005559.4:c.1232A>C MANE Select NP_005550.2:p.Lys411Thr
Search 100 bp 5'
Search 100 bp 3'