Canonical Allele Identifier: CA505231820

Gene: MCOLN1

Linked Data

• ClinVar Variation Id: 2850449
• ClinVar RCV Id: RCV003614709
• MyVariant Identifiers: chr19:g.7594547C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7529661C>T , CM000681.2:g.7529661C>T	GRCh38
NC_000019.9:g.7594547C>T , CM000681.1:g.7594547C>T	GRCh37
NC_000019.8:g.7500547C>T	NCBI36
NG_013374.1:g.510C>T
NG_015806.1:g.12052C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.1308C>T MANE Select	ENSP00000264079.5:p.Tyr436=
ENST00000264079.10:c.1308C>T	ENSP00000264079.5:p.Tyr436=
ENST00000394321.9:n.1623C>T
ENST00000594692.1:n.304C>T
ENST00000595860.5:n.491C>T
ENST00000599334.1:c.185C>T
NM_020533.2:c.1308C>T	NP_065394.1:p.Tyr436=
NM_020533.3:c.1308C>T MANE Select	NP_065394.1:p.Tyr436=