Canonical Allele Identifier: CA417322256

Gene: PPT1

Linked Data

• MyVariant Identifiers: chr1:g.40546087T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40080415T>A , CM000663.2:g.40080415T>A	GRCh38
NC_000001.10:g.40546087T>A , CM000663.1:g.40546087T>A	GRCh37
NC_000001.9:g.40318674T>A	NCBI36
NG_009192.1:g.22056A>T , LRG_690:g.22056A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.606A>T	ENSP00000394863.4:p.Ala202=
ENST00000439754.6:c.609A>T	ENSP00000403207.2:p.Ala203=
ENST00000449045.7:c.300A>T	ENSP00000392293.2:p.Ala100=
ENST00000527311.7:c.378A>T	ENSP00000436695.3:p.Ala126=
ENST00000530076.6:c.-49A>T	ENSP00000434007.1:n.-49A>T
ENST00000530704.6:c.*232A>T	ENSP00000431655.1:n.*232A>T
ENST00000641083.1:c.587A>T
ENST00000641236.1:n.846A>T
ENST00000641319.1:c.609A>T	ENSP00000493128.1:p.Ala203=
ENST00000641381.1:c.149-3502A>T
ENST00000641471.1:c.696A>T	ENSP00000493146.1:p.Ala232=
ENST00000641691.1:c.*461A>T	ENSP00000492910.1:n.*461A>T
ENST00000641924.1:c.*38A>T	ENSP00000493063.1:n.*38A>T
ENST00000642050.2:c.609A>T MANE Select	ENSP00000493153.1:p.Ala203=
ENST00000372779.8:c.696A>T	ENSP00000361865.4:p.Ala232=
ENST00000433473.7:c.609A>T	ENSP00000394863.3:p.Ala203=
ENST00000439754.5:c.294A>T	ENSP00000403207.1:p.Ala98=
ENST00000449045.6:c.300A>T	ENSP00000392293.2:p.Ala100=
ENST00000527311.6:c.384A>T	ENSP00000436695.2:p.Ala128=
ENST00000529905.5:c.609A>T	ENSP00000432053.1:p.Ala203=
ENST00000530076.5:c.-49A>T	ENSP00000434007.1:n.-49A>T
ENST00000530704.5:c.*232A>T	ENSP00000431655.1:n.*232A>T
NM_000310.3:c.609A>T , LRG_690t1:c.609A>T	NP_000301.1:p.Ala203=
NM_001142604.1:c.300A>T	NP_001136076.1:p.Ala100=
XM_005271008.1:c.609A>T	XP_005271065.1:p.Ala203=
NM_001363695.1:c.609A>T	NP_001350624.1:p.Ala203=
NM_000310.4:c.609A>T MANE Select	NP_000301.1:p.Ala203=
NM_001142604.2:c.300A>T	NP_001136076.1:p.Ala100=
NM_001363695.2:c.609A>T	NP_001350624.1:p.Ala203=