Canonical Allele Identifier: CA505233437
Gene: MCOLN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1127310
ClinVar RCV Id: RCV001459695
dbSNP Id: rs561495897
gnomAD v2: 19-7598672-G-T
gnomAD v3: 19-7533786-G-T
gnomAD v4: 19-7533786-G-T
MyVariant Identifiers: chr19:g.7598672G>T (hg19) chr19:g.7533786G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7533786G>T , CM000681.2:g.7533786G>T GRCh38
NC_000019.9:g.7598672G>T , CM000681.1:g.7598672G>T GRCh37
NC_000019.8:g.7504672G>T NCBI36
NG_013374.1:g.4635G>T
NG_015806.1:g.16177G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.1734G>T MANE Select ENSP00000264079.5:p.Leu578=
ENST00000264079.10:c.1734G>T ENSP00000264079.5:p.Leu578=
ENST00000394321.9:n.2049G>T
ENST00000599334.1:c.462G>T
ENST00000601870.1:c.87G>T
ENST00000602227.1:n.288G>T
NM_020533.2:c.1734G>T NP_065394.1:p.Leu578=
NM_020533.3:c.1734G>T MANE Select NP_065394.1:p.Leu578=
Search 100 bp 5'
Search 100 bp 3'