Canonical Allele Identifier: CA505233430

Gene: MCOLN1

Linked Data

• ClinVar Variation Id: 2001687
• ClinVar RCV Id: RCV002815634
• MyVariant Identifiers: chr19:g.7598666G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7533780G>T , CM000681.2:g.7533780G>T	GRCh38
NC_000019.9:g.7598666G>T , CM000681.1:g.7598666G>T	GRCh37
NC_000019.8:g.7504666G>T	NCBI36
NG_013374.1:g.4629G>T
NG_015806.1:g.16171G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.1728G>T MANE Select	ENSP00000264079.5:p.Ser576=
ENST00000264079.10:c.1728G>T	ENSP00000264079.5:p.Ser576=
ENST00000394321.9:n.2043G>T
ENST00000599334.1:c.456G>T
ENST00000601870.1:c.81G>T
ENST00000602227.1:n.282G>T
NM_020533.2:c.1728G>T	NP_065394.1:p.Ser576=
NM_020533.3:c.1728G>T MANE Select	NP_065394.1:p.Ser576=