Canonical Allele Identifier: CA505233431
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs1276758767
gnomAD v3: 19-7533781-C-T
gnomAD v4: 19-7533781-C-T
MyVariant Identifiers: chr19:g.7598667C>T (hg19) chr19:g.7533781C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7533781C>T , CM000681.2:g.7533781C>T GRCh38
NC_000019.9:g.7598667C>T , CM000681.1:g.7598667C>T GRCh37
NC_000019.8:g.7504667C>T NCBI36
NG_013374.1:g.4630C>T
NG_015806.1:g.16172C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.1729C>T MANE Select ENSP00000264079.5:p.Leu577=
ENST00000264079.10:c.1729C>T ENSP00000264079.5:p.Leu577=
ENST00000394321.9:n.2044C>T
ENST00000599334.1:c.457C>T
ENST00000601870.1:c.82C>T
ENST00000602227.1:n.283C>T
NM_020533.2:c.1729C>T NP_065394.1:p.Leu577=
NM_020533.3:c.1729C>T MANE Select NP_065394.1:p.Leu577=
Search 100 bp 5'
Search 100 bp 3'