Canonical Allele Identifier: CA913191124

Gene: MCOLN1

Linked Data

• ClinVar Variation Id: 623351
• ClinVar RCV Id: RCV000761496
• dbSNP Id: rs1568397947

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7525171G>A , CM000681.2:g.7525171G>A	GRCh38
NC_000019.9:g.7590057G>A , CM000681.1:g.7590057G>A	GRCh37
NC_000019.8:g.7496057G>A	NCBI36
NG_015806.1:g.7562G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.237+5G>A MANE Select	ENSP00000264079.5:n.237+5G>A
ENST00000264079.10:c.237+5G>A	ENSP00000264079.5:n.237+5G>A
ENST00000394321.9:n.317+5G>A
ENST00000596390.1:n.358G>A
ENST00000601003.1:c.237+5G>A	ENSP00000469074.1:n.237+5G>A
NM_020533.2:c.237+5G>A	NP_065394.1:n.237+5G>A
NM_020533.3:c.237+5G>A MANE Select	NP_065394.1:n.237+5G>A