Canonical Allele Identifier: CA403092205

Gene: MCOLN1

Linked Data

• MyVariant Identifiers: chr19:g.7598681A>C (hg19) ; chr19:g.7533795A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7533795A>C , CM000681.2:g.7533795A>C	GRCh38
NC_000019.9:g.7598681A>C , CM000681.1:g.7598681A>C	GRCh37
NC_000019.8:g.7504681A>C	NCBI36
NG_013374.1:g.4644A>C
NG_015806.1:g.16186A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.1743A>C MANE Select	ENSP00000264079.5:p.Ter581Cys
ENST00000264079.10:c.1743A>C	ENSP00000264079.5:p.Ter581Cys
ENST00000394321.9:n.2058A>C
ENST00000599334.1:c.471A>C
ENST00000601870.1:c.96A>C
ENST00000602227.1:n.297A>C
NM_020533.2:c.1743A>C	NP_065394.1:p.Ter581Cys
NM_020533.3:c.1743A>C MANE Select	NP_065394.1:p.Ter581Cys