Canonical Allele Identifier: CA9138812
Gene: MCOLN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1086201
ClinVar RCV Id: RCV001403896
dbSNP Id: rs757685298
ExAC: 19:7592488 C / T
gnomAD v2: 19-7592488-C-T
gnomAD v4: 19-7527602-C-T
MyVariant Identifiers: chr19:g.7592488C>T (hg19) chr19:g.7527602C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7527602C>T , CM000681.2:g.7527602C>T GRCh38
NC_000019.9:g.7592488C>T , CM000681.1:g.7592488C>T GRCh37
NC_000019.8:g.7498488C>T NCBI36
NG_015806.1:g.9993C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.654C>T MANE Select ENSP00000264079.5:p.Tyr218=
ENST00000264079.10:c.654C>T ENSP00000264079.5:p.Tyr218=
ENST00000394321.9:n.734C>T
ENST00000598406.1:n.475C>T
ENST00000601003.1:c.572-262C>T ENSP00000469074.1:n.572-262C>T
NM_020533.2:c.654C>T NP_065394.1:p.Tyr218=
NM_020533.3:c.654C>T MANE Select NP_065394.1:p.Tyr218=
Search 100 bp 5'
Search 100 bp 3'