Canonical Allele Identifier: CA339845795

Gene: PPT1

Linked Data

• MyVariant Identifiers: chr1:g.40539843G>T (hg19) ; chr1:g.40074171G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074171G>T , CM000663.2:g.40074171G>T	GRCh38
NC_000001.10:g.40539843G>T , CM000663.1:g.40539843G>T	GRCh37
NC_000001.9:g.40312430G>T	NCBI36
NG_009192.1:g.28300C>A , LRG_690:g.28300C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000433473.8:c.808C>A	ENSP00000394863.4:p.Leu270Ile
ENST00000439754.6:c.739C>A	ENSP00000403207.2:p.Leu247Ile
ENST00000449045.7:c.502C>A	ENSP00000392293.2:p.Leu168Ile
ENST00000527311.7:c.580C>A	ENSP00000436695.3:p.Leu194Ile
ENST00000530076.6:c.154C>A	ENSP00000434007.1:p.Leu52Ile
ENST00000530704.6:c.*434C>A	ENSP00000431655.1:n.*434C>A
ENST00000641083.1:c.901C>A
ENST00000641236.1:n.1048C>A
ENST00000641319.1:c.*21C>A	ENSP00000493128.1:n.*21C>A
ENST00000641381.1:c.233C>A
ENST00000641471.1:c.898C>A	ENSP00000493146.1:p.Leu300Ile
ENST00000641691.1:c.*663C>A	ENSP00000492910.1:n.*663C>A
ENST00000641924.1:c.*240C>A	ENSP00000493063.1:n.*240C>A
ENST00000642050.2:c.811C>A MANE Select	ENSP00000493153.1:p.Leu271Ile
ENST00000372775.2:n.208C>A
ENST00000433473.7:c.811C>A	ENSP00000394863.3:p.Leu271Ile
ENST00000439754.5:c.424C>A	ENSP00000403207.1:p.Leu142Ile
ENST00000449045.6:c.502C>A	ENSP00000392293.2:p.Leu168Ile
ENST00000527311.6:c.586C>A	ENSP00000436695.2:p.Leu196Ile
ENST00000529905.5:c.811C>A	ENSP00000432053.1:p.Leu271Ile
ENST00000530076.5:c.154C>A	ENSP00000434007.1:p.Leu52Ile
ENST00000530704.5:c.*434C>A	ENSP00000431655.1:n.*434C>A
NM_000310.3:c.811C>A , LRG_690t1:c.811C>A	NP_000301.1:p.Leu271Ile
NM_001142604.1:c.502C>A	NP_001136076.1:p.Leu168Ile
XM_005271008.1:c.739C>A	XP_005271065.1:p.Leu247Ile
NM_001363695.1:c.739C>A	NP_001350624.1:p.Leu247Ile
NM_000310.4:c.811C>A MANE Select	NP_000301.1:p.Leu271Ile
NM_001142604.2:c.502C>A	NP_001136076.1:p.Leu168Ile
NM_001363695.2:c.739C>A	NP_001350624.1:p.Leu247Ile