Canonical Allele Identifier: CA347430
Gene: MCOLN1 HGNC NCBI
ClinVar RCV:
RCV000194491
RCV001266563
RCV004525834
ClinVar Variation:
208033
dbSNP:
754097561
gnomAD v2:
19:7594575 G / T
gnomAD v4:
chr19-7529689-G-T
Joint Max Group AF 0.00002254 (AMR)
Exomes Max Group AF 0.00002985 (AMR)
MyVariant.info:
GRCh38 chr19:g.7529689G>T
GRCh37 chr19:g.7594575G>T
Revel Score:
ENST00000264079 (MANE Select) 0.492
ENST00000394321 0.492
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7529689G>T , CM000681.2:g.7529689G>T GRCh38
NC_000019.9:g.7594575G>T , CM000681.1:g.7594575G>T GRCh37
NC_000019.8:g.7500575G>T NCBI36
NG_013374.1:g.538G>T
NG_015806.1:g.12080G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.1336G>T MANE Select ENSP00000264079.5:p.Val446Leu
ENST00000264079.10:c.1336G>T ENSP00000264079.5:p.Val446Leu
ENST00000394321.9:n.1651G>T
ENST00000594692.1:n.332G>T
ENST00000595860.5:n.519G>T
ENST00000599334.1:c.213G>T
NM_020533.2:c.1336G>T NP_065394.1:p.Val446Leu
NM_020533.3:c.1336G>T MANE Select NP_065394.1:p.Val446Leu
Search 100 bp 5'
Search 100 bp 3'