Canonical Allele Identifier: CA505233434

Gene: MCOLN1

Linked Data

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

Genomic Alleles

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

Transcript Alleles

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