Canonical Allele Identifier: CA2743276170

Gene: PPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074381_40074406dup , CM000663.2:g.40074381_40074406dup	GRCh38
NC_000001.10:g.40540053_40540078dup , CM000663.1:g.40540053_40540078dup	GRCh37
NC_000001.9:g.40312640_40312665dup	NCBI36
NG_009192.1:g.28065_28090dup , LRG_690:g.28065_28090dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.796-223_796-198dup	ENSP00000394863.4:n.796-223_796-198dup
ENST00000439754.6:c.727-223_727-198dup	ENSP00000403207.2:n.727-223_727-198dup
ENST00000449045.7:c.490-223_490-198dup	ENSP00000392293.2:n.490-223_490-198dup
ENST00000527311.7:c.568-223_568-198dup	ENSP00000436695.3:n.568-223_568-198dup
ENST00000530076.6:c.142-223_142-198dup	ENSP00000434007.1:n.142-223_142-198dup
ENST00000530704.6:c.*422-223_*422-198dup	ENSP00000431655.1:n.*422-223_*422-198dup
ENST00000641083.1:c.889-223_889-198dup
ENST00000641236.1:n.1036-223_1036-198dup
ENST00000641319.1:c.*9-223_*9-198dup	ENSP00000493128.1:n.*9-223_*9-198dup
ENST00000641381.1:c.221-223_221-198dup
ENST00000641471.1:c.886-223_886-198dup	ENSP00000493146.1:n.886-223_886-198dup
ENST00000641691.1:c.*651-223_*651-198dup	ENSP00000492910.1:n.*651-223_*651-198dup
ENST00000641924.1:c.*228-223_*228-198dup	ENSP00000493063.1:n.*228-223_*228-198dup
ENST00000642050.2:c.799-223_799-198dup MANE Select	ENSP00000493153.1:n.799-223_799-198dup
ENST00000372775.2:n.196-223_196-198dup
ENST00000433473.7:c.799-223_799-198dup	ENSP00000394863.3:n.799-223_799-198dup
ENST00000439754.5:c.412-223_412-198dup	ENSP00000403207.1:n.412-223_412-198dup
ENST00000449045.6:c.490-223_490-198dup	ENSP00000392293.2:n.490-223_490-198dup
ENST00000527311.6:c.574-223_574-198dup	ENSP00000436695.2:n.574-223_574-198dup
ENST00000529905.5:c.799-223_799-198dup	ENSP00000432053.1:n.799-223_799-198dup
ENST00000530076.5:c.142-223_142-198dup	ENSP00000434007.1:n.142-223_142-198dup
ENST00000530704.5:c.*422-223_*422-198dup	ENSP00000431655.1:n.*422-223_*422-198dup
NM_000310.3:c.799-223_799-198dup , LRG_690t1:c.799-223_799-198dup	NP_000301.1:n.799-223_799-198dup
NM_001142604.1:c.490-223_490-198dup	NP_001136076.1:n.490-223_490-198dup
XM_005271008.1:c.727-223_727-198dup	XP_005271065.1:n.727-223_727-198dup
NM_001363695.1:c.727-223_727-198dup	NP_001350624.1:n.727-223_727-198dup
NM_000310.4:c.799-223_799-198dup MANE Select	NP_000301.1:n.799-223_799-198dup
NM_001142604.2:c.490-223_490-198dup	NP_001136076.1:n.490-223_490-198dup
NM_001363695.2:c.727-223_727-198dup	NP_001350624.1:n.727-223_727-198dup