Canonical Allele Identifier: CA505232339
Gene: MCOLN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1127776
ClinVar RCV Id: RCV001460288
dbSNP Id: rs2022637355
gnomAD v4: 19-7530316-C-T
MyVariant Identifiers: chr19:g.7595202C>T (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7530316C>T , CM000681.2:g.7530316C>T GRCh38
NC_000019.9:g.7595202C>T , CM000681.1:g.7595202C>T GRCh37
NC_000019.8:g.7501202C>T NCBI36
NG_013374.1:g.1165C>T
NG_015806.1:g.12707C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000264079.11:c.1390C>T MANE Select ENSP00000264079.5:p.Leu464=
ENST00000264079.10:c.1390C>T ENSP00000264079.5:p.Leu464=
ENST00000394321.9:n.1705C>T
ENST00000594692.1:n.386C>T
ENST00000595860.5:n.573C>T
ENST00000599334.1:c.237-119C>T
NM_020533.2:c.1390C>T NP_065394.1:p.Leu464=
NM_020533.3:c.1390C>T MANE Select NP_065394.1:p.Leu464=
Search 100 bp 5'
Search 100 bp 3'