Canonical Allele Identifier: CA505230027

Gene: MCOLN1

Linked Data

• ClinVar Variation Id: 2018039
• ClinVar RCV Id: RCV002861799
• MyVariant Identifiers: chr19:g.7591718T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7526832T>C , CM000681.2:g.7526832T>C	GRCh38
NC_000019.9:g.7591718T>C , CM000681.1:g.7591718T>C	GRCh37
NC_000019.8:g.7497718T>C	NCBI36
NG_015806.1:g.9223T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000264079.11:c.477T>C MANE Select	ENSP00000264079.5:p.Asn159=
ENST00000264079.10:c.477T>C	ENSP00000264079.5:p.Asn159=
ENST00000394321.9:n.557T>C
ENST00000596008.1:n.439T>C
ENST00000598406.1:n.298T>C
ENST00000601003.1:c.477T>C	ENSP00000469074.1:p.Asn159=
NM_020533.2:c.477T>C	NP_065394.1:p.Asn159=
NM_020533.3:c.477T>C MANE Select	NP_065394.1:p.Asn159=