Canonical Allele Identifier: CA10603662
Gene: MCOLN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 280304
dbSNP Id: rs886041533

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7527563dup , CM000681.2:g.7527563dup GRCh38
NC_000019.9:g.7592449dup , CM000681.1:g.7592449dup GRCh37
NC_000019.8:g.7498449dup NCBI36
NG_015806.1:g.9954dup

Transcript Alleles

HGVS Amino-acid change
ENST00000264079.11:c.615dup MANE Select ENSP00000264079.5:p.Ser206GlnfsTer?
ENST00000264079.10:c.615dup ENSP00000264079.5:p.Ser206GlnfsTer?
ENST00000394321.9:n.695dup
ENST00000598406.1:n.436dup
ENST00000601003.1:c.572-301dup ENSP00000469074.1:n.572-301dup
NM_020533.2:c.615dup NP_065394.1:p.Ser206GlnfsTer?
NM_020533.3:c.615dup MANE Select NP_065394.1:p.Ser206GlnfsTer?