Canonical Allele Identifier: CA417322008

Gene: PPT1

Linked Data

• MyVariant Identifiers: chr1:g.40539811C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074139C>A , CM000663.2:g.40074139C>A	GRCh38
NC_000001.10:g.40539811C>A , CM000663.1:g.40539811C>A	GRCh37
NC_000001.9:g.40312398C>A	NCBI36
NG_009192.1:g.28332G>T , LRG_690:g.28332G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.840G>T	ENSP00000394863.4:p.Val280=
ENST00000439754.6:c.771G>T	ENSP00000403207.2:p.Val257=
ENST00000449045.7:c.534G>T	ENSP00000392293.2:p.Val178=
ENST00000527311.7:c.612G>T	ENSP00000436695.3:p.Val204=
ENST00000530076.6:c.186G>T	ENSP00000434007.1:p.Val62=
ENST00000530704.6:c.*466G>T	ENSP00000431655.1:n.*466G>T
ENST00000641083.1:c.933G>T
ENST00000641236.1:n.1080G>T
ENST00000641319.1:c.*53G>T	ENSP00000493128.1:n.*53G>T
ENST00000641381.1:c.265G>T
ENST00000641471.1:c.930G>T	ENSP00000493146.1:p.Val310=
ENST00000641691.1:c.*695G>T	ENSP00000492910.1:n.*695G>T
ENST00000641924.1:c.*272G>T	ENSP00000493063.1:n.*272G>T
ENST00000642050.2:c.843G>T MANE Select	ENSP00000493153.1:p.Val281=
ENST00000372775.2:n.240G>T
ENST00000433473.7:c.843G>T	ENSP00000394863.3:p.Val281=
ENST00000439754.5:c.456G>T	ENSP00000403207.1:p.Val152=
ENST00000449045.6:c.534G>T	ENSP00000392293.2:p.Val178=
ENST00000529905.5:c.843G>T	ENSP00000432053.1:p.Val281=
ENST00000530076.5:c.186G>T	ENSP00000434007.1:p.Val62=
ENST00000530704.5:c.*466G>T	ENSP00000431655.1:n.*466G>T
NM_000310.3:c.843G>T , LRG_690t1:c.843G>T	NP_000301.1:p.Val281=
NM_001142604.1:c.534G>T	NP_001136076.1:p.Val178=
XM_005271008.1:c.771G>T	XP_005271065.1:p.Val257=
NM_001363695.1:c.771G>T	NP_001350624.1:p.Val257=
NM_000310.4:c.843G>T MANE Select	NP_000301.1:p.Val281=
NM_001142604.2:c.534G>T	NP_001136076.1:p.Val178=
NM_001363695.2:c.771G>T	NP_001350624.1:p.Val257=