Canonical Allele Identifier: CA347334
Gene: MCOLN1 HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.7527877A>C
GRCh37 chr19:g.7592763A>C
Revel Score:
ENST00000264079 (MANE Select) 0.736
ENST00000394321 0.736
gnomAD v2:
19:7592763 A / C
gnomAD v3:
19:7527877 A / C
gnomAD v4:
chr19-7527877-A-C
Joint Max Group AF 0.00005028 (NFE)
Exomes Max Group AF 0.00005248 (NFE)
ClinVar RCV:
RCV000192300
ClinVar Variation:
208021
dbSNP:
767122713
JSON-LD

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
ENST00000264079.11:c.694A>C MANE Select ENSP00000264079.5: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=
NM_020533.2:c.694A>C NP_065394.1:p.Thr232Pro
NM_020533.3:c.694A>C MANE Select NP_065394.1:p.Thr232Pro
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