Canonical Allele Identifier: CA403083883
Gene: MCOLN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1528059
ClinVar RCV Id: RCV002071070
dbSNP Id: rs2022595761
gnomAD v4: 19-7527888-C-T
COSMIC: COSM1397564
MyVariant Identifiers: chr19:g.7592774C>T (hg19) chr19:g.7527888C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7527888C>T , CM000681.2:g.7527888C>T GRCh38
NC_000019.9:g.7592774C>T , CM000681.1:g.7592774C>T GRCh37
NC_000019.8:g.7498774C>T NCBI36
NG_015806.1:g.10279C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.705C>T MANE Select ENSP00000264079.5:p.Phe235=
ENST00000264079.10:c.705C>T ENSP00000264079.5:p.Phe235=
ENST00000394321.9:n.1020C>T
ENST00000601003.1:c.596C>T ENSP00000469074.1:p.Ser199Phe
NM_020533.2:c.705C>T NP_065394.1:p.Phe235=
NM_020533.3:c.705C>T MANE Select NP_065394.1:p.Phe235=
Search 100 bp 5'
Search 100 bp 3'