Canonical Allele Identifier: CA505232273
Gene: MCOLN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1604633
ClinVar RCV Id: RCV002157738
dbSNP Id: rs201157863
gnomAD v3: 19-7525142-C-G
gnomAD v4: 19-7525142-C-G
MyVariant Identifiers: chr19:g.7590028C>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7525142C>G , CM000681.2:g.7525142C>G GRCh38
NC_000019.9:g.7590028C>G , CM000681.1:g.7590028C>G GRCh37
NC_000019.8:g.7496028C>G NCBI36
NG_015806.1:g.7533C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.213C>G MANE Select ENSP00000264079.5:p.Val71=
ENST00000264079.10:c.213C>G ENSP00000264079.5:p.Val71=
ENST00000394321.9:n.293C>G
ENST00000596390.1:n.329C>G
ENST00000601003.1:c.213C>G ENSP00000469074.1:p.Val71=
NM_020533.2:c.213C>G NP_065394.1:p.Val71=
NM_020533.3:c.213C>G MANE Select NP_065394.1:p.Val71=
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Search 100 bp 3'