Canonical Allele Identifier: CA347334
Gene: MCOLN1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 208021
ClinVar RCV Id: RCV000192300
dbSNP Id: rs767122713

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7527877A>C , CM000681.2:g.7527877A>C GRCh38
NC_000019.9:g.7592763A>C , CM000681.1:g.7592763A>C GRCh37
NC_000019.8:g.7498763A>C NCBI36
NG_015806.1:g.10268A>C

Transcript Alleles

HGVS Amino-acid change
NM_020533.2:c.694A>C VV NP_065394.1:p.Thr232Pro
NM_020533.3:c.694A>C VV MANE Preferred NP_065394.1:p.Thr232Pro
ENST00000264079.10:c.694A>C ENSP00000264079.5:p.Thr232Pro
ENST00000394321.9:n.1009A>C
ENST00000601003.1:c.585A>C ENSP00000469074.1:p.Ser195=