Canonical Allele Identifier: CA505230442
Gene: MCOLN1 HGNC NCBI

Linked Data

COSMIC: COSM5601794
MyVariant Identifiers: chr19:g.7592464C>T (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7527578C>T , CM000681.2:g.7527578C>T GRCh38
NC_000019.9:g.7592464C>T , CM000681.1:g.7592464C>T GRCh37
NC_000019.8:g.7498464C>T NCBI36
NG_015806.1:g.9969C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000264079.11:c.630C>T MANE Select ENSP00000264079.5:p.Thr210=
ENST00000264079.10:c.630C>T ENSP00000264079.5:p.Thr210=
ENST00000394321.9:n.710C>T
ENST00000598406.1:n.451C>T
ENST00000601003.1:c.572-286C>T ENSP00000469074.1:n.572-286C>T
NM_020533.2:c.630C>T NP_065394.1:p.Thr210=
NM_020533.3:c.630C>T MANE Select NP_065394.1:p.Thr210=
Search 100 bp 5'
Search 100 bp 3'