Canonical Allele Identifier: CA505233435

Gene: MCOLN1

Linked Data

• ClinVar Variation Id: 2755483
• ClinVar RCV Id: RCV003504871
• MyVariant Identifiers: chr19:g.7598670C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7533784C>T , CM000681.2:g.7533784C>T	GRCh38
NC_000019.9:g.7598670C>T , CM000681.1:g.7598670C>T	GRCh37
NC_000019.8:g.7504670C>T	NCBI36
NG_013374.1:g.4633C>T
NG_015806.1:g.16175C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.1732C>T MANE Select	ENSP00000264079.5:p.Leu578=
ENST00000264079.10:c.1732C>T	ENSP00000264079.5:p.Leu578=
ENST00000394321.9:n.2047C>T
ENST00000599334.1:c.460C>T
ENST00000601870.1:c.85C>T
ENST00000602227.1:n.286C>T
NM_020533.2:c.1732C>T	NP_065394.1:p.Leu578=
NM_020533.3:c.1732C>T MANE Select	NP_065394.1:p.Leu578=