Canonical Allele Identifier: CA403088088
Gene: MCOLN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7529693T>G , CM000681.2:g.7529693T>G GRCh38
NC_000019.9:g.7594579T>G , CM000681.1:g.7594579T>G GRCh37
NC_000019.8:g.7500579T>G NCBI36
NG_013374.1:g.542T>G
NG_015806.1:g.12084T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.1340T>G MANE Select ENSP00000264079.5:p.Leu447Arg
ENST00000264079.10:c.1340T>G ENSP00000264079.5:p.Leu447Arg
ENST00000394321.9:n.1655T>G
ENST00000594692.1:n.336T>G
ENST00000595860.5:n.523T>G
ENST00000599334.1:c.217T>G
NM_020533.2:c.1340T>G NP_065394.1:p.Leu447Arg
NM_020533.3:c.1340T>G MANE Select NP_065394.1:p.Leu447Arg