Canonical Allele Identifier: CA505229695
Gene: MCOLN1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.7591661T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7526775T>A , CM000681.2:g.7526775T>A GRCh38
NC_000019.9:g.7591661T>A , CM000681.1:g.7591661T>A GRCh37
NC_000019.8:g.7497661T>A NCBI36
NG_015806.1:g.9166T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.420T>A MANE Select ENSP00000264079.5:p.Pro140=
ENST00000264079.10:c.420T>A ENSP00000264079.5:p.Pro140=
ENST00000394321.9:n.500T>A
ENST00000596008.1:n.382T>A
ENST00000598406.1:n.241T>A
ENST00000601003.1:c.420T>A ENSP00000469074.1:p.Pro140=
NM_020533.2:c.420T>A NP_065394.1:p.Pro140=
NM_020533.3:c.420T>A MANE Select NP_065394.1:p.Pro140=