Canonical Allele Identifier: CA403092120
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs2022710675
gnomAD v3: 19-7533787-G-T
gnomAD v4: 19-7533787-G-T
MyVariant Identifiers: chr19:g.7598673G>T (hg19) chr19:g.7533787G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7533787G>T , CM000681.2:g.7533787G>T GRCh38
NC_000019.9:g.7598673G>T , CM000681.1:g.7598673G>T GRCh37
NC_000019.8:g.7504673G>T NCBI36
NG_013374.1:g.4636G>T
NG_015806.1:g.16178G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.1735G>T MANE Select ENSP00000264079.5:p.Val579Leu
ENST00000264079.10:c.1735G>T ENSP00000264079.5:p.Val579Leu
ENST00000394321.9:n.2050G>T
ENST00000599334.1:c.463G>T
ENST00000601870.1:c.88G>T
ENST00000602227.1:n.289G>T
NM_020533.2:c.1735G>T NP_065394.1:p.Val579Leu
NM_020533.3:c.1735G>T MANE Select NP_065394.1:p.Val579Leu
Search 100 bp 5'
Search 100 bp 3'