Canonical Allele Identifier: CA505233432
Gene: MCOLN1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.7598669G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7533783G>A , CM000681.2:g.7533783G>A GRCh38
NC_000019.9:g.7598669G>A , CM000681.1:g.7598669G>A GRCh37
NC_000019.8:g.7504669G>A NCBI36
NG_013374.1:g.4632G>A
NG_015806.1:g.16174G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.1731G>A MANE Select ENSP00000264079.5:p.Leu577=
ENST00000264079.10:c.1731G>A ENSP00000264079.5:p.Leu577=
ENST00000394321.9:n.2046G>A
ENST00000599334.1:c.459G>A
ENST00000601870.1:c.84G>A
ENST00000602227.1:n.285G>A
NM_020533.2:c.1731G>A NP_065394.1:p.Leu577=
NM_020533.3:c.1731G>A MANE Select NP_065394.1:p.Leu577=