Canonical Allele Identifier: CA339845787

Gene: PPT1

Linked Data

• MyVariant Identifiers: chr1:g.40539842A>C (hg19) ; chr1:g.40074170A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074170A>C , CM000663.2:g.40074170A>C	GRCh38
NC_000001.10:g.40539842A>C , CM000663.1:g.40539842A>C	GRCh37
NC_000001.9:g.40312429A>C	NCBI36
NG_009192.1:g.28301T>G , LRG_690:g.28301T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000433473.8:c.809T>G	ENSP00000394863.4:p.Leu270Arg
ENST00000439754.6:c.740T>G	ENSP00000403207.2:p.Leu247Arg
ENST00000449045.7:c.503T>G	ENSP00000392293.2:p.Leu168Arg
ENST00000527311.7:c.581T>G	ENSP00000436695.3:p.Leu194Arg
ENST00000530076.6:c.155T>G	ENSP00000434007.1:p.Leu52Arg
ENST00000530704.6:c.*435T>G	ENSP00000431655.1:n.*435T>G
ENST00000641083.1:c.902T>G
ENST00000641236.1:n.1049T>G
ENST00000641319.1:c.*22T>G	ENSP00000493128.1:n.*22T>G
ENST00000641381.1:c.234T>G
ENST00000641471.1:c.899T>G	ENSP00000493146.1:p.Leu300Arg
ENST00000641691.1:c.*664T>G	ENSP00000492910.1:n.*664T>G
ENST00000641924.1:c.*241T>G	ENSP00000493063.1:n.*241T>G
ENST00000642050.2:c.812T>G MANE Select	ENSP00000493153.1:p.Leu271Arg
ENST00000372775.2:n.209T>G
ENST00000433473.7:c.812T>G	ENSP00000394863.3:p.Leu271Arg
ENST00000439754.5:c.425T>G	ENSP00000403207.1:p.Leu142Arg
ENST00000449045.6:c.503T>G	ENSP00000392293.2:p.Leu168Arg
ENST00000527311.6:c.587T>G	ENSP00000436695.2:p.Leu196Arg
ENST00000529905.5:c.812T>G	ENSP00000432053.1:p.Leu271Arg
ENST00000530076.5:c.155T>G	ENSP00000434007.1:p.Leu52Arg
ENST00000530704.5:c.*435T>G	ENSP00000431655.1:n.*435T>G
NM_000310.3:c.812T>G , LRG_690t1:c.812T>G	NP_000301.1:p.Leu271Arg
NM_001142604.1:c.503T>G	NP_001136076.1:p.Leu168Arg
XM_005271008.1:c.740T>G	XP_005271065.1:p.Leu247Arg
NM_001363695.1:c.740T>G	NP_001350624.1:p.Leu247Arg
NM_000310.4:c.812T>G MANE Select	NP_000301.1:p.Leu271Arg
NM_001142604.2:c.503T>G	NP_001136076.1:p.Leu168Arg
NM_001363695.2:c.740T>G	NP_001350624.1:p.Leu247Arg