Canonical Allele Identifier: CA505232247
Gene: MCOLN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 991185
ClinVar RCV Id: RCV001279356
dbSNP Id: rs1481445686
gnomAD v2: 19-7590019-G-A
gnomAD v4: 19-7525133-G-A
MyVariant Identifiers: chr19:g.7590019G>A (hg19) chr19:g.7525133G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7525133G>A , CM000681.2:g.7525133G>A GRCh38
NC_000019.9:g.7590019G>A , CM000681.1:g.7590019G>A GRCh37
NC_000019.8:g.7496019G>A NCBI36
NG_015806.1:g.7524G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.204G>A MANE Select ENSP00000264079.5:p.Leu68=
ENST00000264079.10:c.204G>A ENSP00000264079.5:p.Leu68=
ENST00000394321.9:n.284G>A
ENST00000596390.1:n.320G>A
ENST00000601003.1:c.204G>A ENSP00000469074.1:p.Leu68=
NM_020533.2:c.204G>A NP_065394.1:p.Leu68=
NM_020533.3:c.204G>A MANE Select NP_065394.1:p.Leu68=
Search 100 bp 5'
Search 100 bp 3'