Canonical Allele Identifier: CA502473612
Gene: LAMA1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr18:g.7042175A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.7042176A>T , CM000680.2:g.7042176A>T GRCh38
NC_000018.9:g.7042175A>T , CM000680.1:g.7042175A>T GRCh37
NC_000018.8:g.7032175A>T NCBI36
NG_034251.1:g.80639T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000389658.4:c.1230T>A MANE Select ENSP00000374309.3:p.Ile410=
ENST00000389658.3:c.1230T>A ENSP00000374309.3:p.Ile410=
ENST00000579014.5:n.2245T>A
NM_005559.3:c.1230T>A NP_005550.2:p.Ile410=
XM_011525655.1:c.1230T>A XP_011523957.1:p.Ile410=
XM_011525657.1:c.1230T>A XP_011523959.1:p.Ile410=
XM_011525655.2:c.1230T>A XP_011523957.1:p.Ile410=
NM_005559.4:c.1230T>A MANE Select NP_005550.2:p.Ile410=