Canonical Allele Identifier: CA505230369
Gene: MCOLN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1130351
ClinVar RCV Id: RCV001463815
dbSNP Id: rs2146023479
gnomAD v4: 19-7527551-C-T
MyVariant Identifiers: chr19:g.7592437C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7527551C>T , CM000681.2:g.7527551C>T GRCh38
NC_000019.9:g.7592437C>T , CM000681.1:g.7592437C>T GRCh37
NC_000019.8:g.7498437C>T NCBI36
NG_015806.1:g.9942C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.603C>T MANE Select ENSP00000264079.5:p.Pro201=
ENST00000264079.10:c.603C>T ENSP00000264079.5:p.Pro201=
ENST00000394321.9:n.683C>T
ENST00000598406.1:n.424C>T
ENST00000601003.1:c.572-313C>T ENSP00000469074.1:n.572-313C>T
NM_020533.2:c.603C>T NP_065394.1:p.Pro201=
NM_020533.3:c.603C>T MANE Select NP_065394.1:p.Pro201=
Search 100 bp 5'
Search 100 bp 3'