Canonical Allele Identifier: CA502473523
Gene: LAMA1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr18:g.7042163G>T (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.7042164G>T , CM000680.2:g.7042164G>T GRCh38
NC_000018.9:g.7042163G>T , CM000680.1:g.7042163G>T GRCh37
NC_000018.8:g.7032163G>T NCBI36
NG_034251.1:g.80651C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000389658.4:c.1242C>A MANE Select ENSP00000374309.3:p.Leu414=
ENST00000389658.3:c.1242C>A ENSP00000374309.3:p.Leu414=
ENST00000579014.5:n.2257C>A
NM_005559.3:c.1242C>A NP_005550.2:p.Leu414=
XM_011525655.1:c.1242C>A XP_011523957.1:p.Leu414=
XM_011525657.1:c.1242C>A XP_011523959.1:p.Leu414=
XM_011525655.2:c.1242C>A XP_011523957.1:p.Leu414=
NM_005559.4:c.1242C>A MANE Select NP_005550.2:p.Leu414=
Search 100 bp 5'
Search 100 bp 3'