Canonical Allele Identifier: CA403088071
Gene: MCOLN1 HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.7529689G>C
GRCh37 chr19:g.7594575G>C
Revel Score:
ENST00000264079 (MANE Select) 0.493
ENST00000394321 0.493
gnomAD v4:
chr19-7529689-G-C
Joint Max Group AF 2.8e-7 (NFE)
Exomes Max Group AF 3e-7 (NFE)
JSON-LD

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.1336G>C MANE Select ENSP00000264079.5:p.Val446Leu
ENST00000264079.10:c.1336G>C ENSP00000264079.5:p.Val446Leu
ENST00000394321.9:n.1651G>C
ENST00000594692.1:n.332G>C
ENST00000595860.5:n.519G>C
ENST00000599334.1:c.213G>C
NM_020533.2:c.1336G>C NP_065394.1:p.Val446Leu
NM_020533.3:c.1336G>C MANE Select NP_065394.1:p.Val446Leu
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