Canonical Allele Identifier: CA417322757

Gene: PPT1

Linked Data

• MyVariant Identifiers: chr1:g.40557719A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40092047A>G , CM000663.2:g.40092047A>G	GRCh38
NC_000001.10:g.40557719A>G , CM000663.1:g.40557719A>G	GRCh37
NC_000001.9:g.40330306A>G	NCBI36
NG_009192.1:g.10424T>C , LRG_690:g.10424T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372779.9:c.*196T>C	ENSP00000361865.5:n.*196T>C
ENST00000433473.8:c.357T>C	ENSP00000394863.4:p.Phe119=
ENST00000439754.6:c.360T>C	ENSP00000403207.2:p.Phe120=
ENST00000449045.7:c.125-2535T>C	ENSP00000392293.2:n.125-2535T>C
ENST00000526547.2:c.640T>C
ENST00000527311.7:c.234+351T>C	ENSP00000436695.3:n.234+351T>C
ENST00000530704.6:c.360T>C	ENSP00000431655.1:p.Phe120=
ENST00000641083.1:c.338T>C
ENST00000641236.1:n.597T>C
ENST00000641319.1:c.360T>C	ENSP00000493128.1:p.Phe120=
ENST00000641471.1:c.447T>C	ENSP00000493146.1:p.Phe149=
ENST00000641548.1:c.*212T>C	ENSP00000492984.1:n.*212T>C
ENST00000641691.1:c.*212T>C	ENSP00000492910.1:n.*212T>C
ENST00000641924.1:c.124+5068T>C	ENSP00000493063.1:n.124+5068T>C
ENST00000642050.2:c.360T>C MANE Select	ENSP00000493153.1:p.Phe120=
ENST00000372779.8:c.447T>C	ENSP00000361865.4:p.Phe149=
ENST00000433473.7:c.360T>C	ENSP00000394863.3:p.Phe120=
ENST00000439754.5:c.45T>C	ENSP00000403207.1:p.Phe15=
ENST00000449045.6:c.125-2535T>C	ENSP00000392293.2:n.125-2535T>C
ENST00000526547.1:c.210T>C	ENSP00000436481.1:p.Phe70=
ENST00000527311.6:c.135T>C	ENSP00000436695.2:p.Phe45=
ENST00000529905.5:c.360T>C	ENSP00000432053.1:p.Phe120=
ENST00000530704.5:c.360T>C	ENSP00000431655.1:p.Phe120=
NM_000310.3:c.360T>C , LRG_690t1:c.360T>C	NP_000301.1:p.Phe120=
NM_001142604.1:c.125-2535T>C	NP_001136076.1:n.125-2535T>C
XM_005271008.1:c.360T>C	XP_005271065.1:p.Phe120=
NM_001363695.1:c.360T>C	NP_001350624.1:p.Phe120=
NM_000310.4:c.360T>C MANE Select	NP_000301.1:p.Phe120=
NM_001142604.2:c.125-2535T>C	NP_001136076.1:n.125-2535T>C
NM_001363695.2:c.360T>C	NP_001350624.1:p.Phe120=