Canonical Allele Identifier: CA417322040

Gene: PPT1

Linked Data

• MyVariant Identifiers: chr1:g.40539841T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074169T>G , CM000663.2:g.40074169T>G	GRCh38
NC_000001.10:g.40539841T>G , CM000663.1:g.40539841T>G	GRCh37
NC_000001.9:g.40312428T>G	NCBI36
NG_009192.1:g.28302A>C , LRG_690:g.28302A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000433473.8:c.810A>C	ENSP00000394863.4:p.Leu270=
ENST00000439754.6:c.741A>C	ENSP00000403207.2:p.Leu247=
ENST00000449045.7:c.504A>C	ENSP00000392293.2:p.Leu168=
ENST00000527311.7:c.582A>C	ENSP00000436695.3:p.Leu194=
ENST00000530076.6:c.156A>C	ENSP00000434007.1:p.Leu52=
ENST00000530704.6:c.*436A>C	ENSP00000431655.1:n.*436A>C
ENST00000641083.1:c.903A>C
ENST00000641236.1:n.1050A>C
ENST00000641319.1:c.*23A>C	ENSP00000493128.1:n.*23A>C
ENST00000641381.1:c.235A>C
ENST00000641471.1:c.900A>C	ENSP00000493146.1:p.Leu300=
ENST00000641691.1:c.*665A>C	ENSP00000492910.1:n.*665A>C
ENST00000641924.1:c.*242A>C	ENSP00000493063.1:n.*242A>C
ENST00000642050.2:c.813A>C MANE Select	ENSP00000493153.1:p.Leu271=
ENST00000372775.2:n.210A>C
ENST00000433473.7:c.813A>C	ENSP00000394863.3:p.Leu271=
ENST00000439754.5:c.426A>C	ENSP00000403207.1:p.Leu142=
ENST00000449045.6:c.504A>C	ENSP00000392293.2:p.Leu168=
ENST00000527311.6:c.588A>C	ENSP00000436695.2:p.Leu196=
ENST00000529905.5:c.813A>C	ENSP00000432053.1:p.Leu271=
ENST00000530076.5:c.156A>C	ENSP00000434007.1:p.Leu52=
ENST00000530704.5:c.*436A>C	ENSP00000431655.1:n.*436A>C
NM_000310.3:c.813A>C , LRG_690t1:c.813A>C	NP_000301.1:p.Leu271=
NM_001142604.1:c.504A>C	NP_001136076.1:p.Leu168=
XM_005271008.1:c.741A>C	XP_005271065.1:p.Leu247=
NM_001363695.1:c.741A>C	NP_001350624.1:p.Leu247=
NM_000310.4:c.813A>C MANE Select	NP_000301.1:p.Leu271=
NM_001142604.2:c.504A>C	NP_001136076.1:p.Leu168=
NM_001363695.2:c.741A>C	NP_001350624.1:p.Leu247=