Canonical Allele Identifier: CA505231814

Gene: MCOLN1

Linked Data

• ClinVar Variation Id: 2839760
• ClinVar RCV Id: RCV003614533
• MyVariant Identifiers: chr19:g.7594544C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7529658C>A , CM000681.2:g.7529658C>A	GRCh38
NC_000019.9:g.7594544C>A , CM000681.1:g.7594544C>A	GRCh37
NC_000019.8:g.7500544C>A	NCBI36
NG_013374.1:g.507C>A
NG_015806.1:g.12049C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.1305C>A MANE Select	ENSP00000264079.5:p.Ile435=
ENST00000264079.10:c.1305C>A	ENSP00000264079.5:p.Ile435=
ENST00000394321.9:n.1620C>A
ENST00000594692.1:n.301C>A
ENST00000595860.5:n.488C>A
ENST00000599334.1:c.182C>A
NM_020533.2:c.1305C>A	NP_065394.1:p.Ile435=
NM_020533.3:c.1305C>A MANE Select	NP_065394.1:p.Ile435=