Canonical Allele Identifier: CA417322847

Gene: PPT1

Linked Data

• ClinVar Variation Id: 2743069
• ClinVar RCV Id: RCV003509259
• MyVariant Identifiers: chr1:g.40558076C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40092404C>G , CM000663.2:g.40092404C>G	GRCh38
NC_000001.10:g.40558076C>G , CM000663.1:g.40558076C>G	GRCh37
NC_000001.9:g.40330663C>G	NCBI36
NG_009192.1:g.10067G>C , LRG_690:g.10067G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000372779.9:c.*64G>C	ENSP00000361865.5:n.*64G>C
ENST00000433473.8:c.225G>C	ENSP00000394863.4:p.Leu75=
ENST00000439754.6:c.228G>C	ENSP00000403207.2:p.Leu76=
ENST00000449045.7:c.125-2892G>C	ENSP00000392293.2:n.125-2892G>C
ENST00000526547.2:c.508G>C
ENST00000527311.7:c.228G>C	ENSP00000436695.3:p.Leu76=
ENST00000530704.6:c.228G>C	ENSP00000431655.1:p.Leu76=
ENST00000641083.1:c.206G>C
ENST00000641236.1:n.240G>C
ENST00000641319.1:c.228G>C	ENSP00000493128.1:p.Leu76=
ENST00000641471.1:c.315G>C	ENSP00000493146.1:p.Leu105=
ENST00000641548.1:c.*80G>C	ENSP00000492984.1:n.*80G>C
ENST00000641691.1:c.*80G>C	ENSP00000492910.1:n.*80G>C
ENST00000641924.1:c.124+4711G>C	ENSP00000493063.1:n.124+4711G>C
ENST00000642050.2:c.228G>C MANE Select	ENSP00000493153.1:p.Leu76=
ENST00000372779.8:c.315G>C	ENSP00000361865.4:p.Leu105=
ENST00000433473.7:c.228G>C	ENSP00000394863.3:p.Leu76=
ENST00000449045.6:c.125-2892G>C	ENSP00000392293.2:n.125-2892G>C
ENST00000526547.1:c.78G>C	ENSP00000436481.1:p.Leu26=
ENST00000527311.6:c.125-347G>C	ENSP00000436695.2:n.125-347G>C
ENST00000529905.5:c.228G>C	ENSP00000432053.1:p.Leu76=
ENST00000530704.5:c.228G>C	ENSP00000431655.1:p.Leu76=
NM_000310.3:c.228G>C , LRG_690t1:c.228G>C	NP_000301.1:p.Leu76=
NM_001142604.1:c.125-2892G>C	NP_001136076.1:n.125-2892G>C
XM_005271008.1:c.228G>C	XP_005271065.1:p.Leu76=
NM_001363695.1:c.228G>C	NP_001350624.1:p.Leu76=
NM_000310.4:c.228G>C MANE Select	NP_000301.1:p.Leu76=
NM_001142604.2:c.125-2892G>C	NP_001136076.1:n.125-2892G>C
NM_001363695.2:c.228G>C	NP_001350624.1:p.Leu76=