Canonical Allele Identifier: CA1000854132

Gene: PPT1

Linked Data

• dbSNP Id: rs1648458108
• gnomAD v3: 1-40074304-G-A
• gnomAD v4: 1-40074304-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074304G>A , CM000663.2:g.40074304G>A	GRCh38
NC_000001.10:g.40539976G>A , CM000663.1:g.40539976G>A	GRCh37
NC_000001.9:g.40312563G>A	NCBI36
NG_009192.1:g.28167C>T , LRG_690:g.28167C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.796-121C>T	ENSP00000394863.4:n.796-121C>T
ENST00000439754.6:c.727-121C>T	ENSP00000403207.2:n.727-121C>T
ENST00000449045.7:c.490-121C>T	ENSP00000392293.2:n.490-121C>T
ENST00000527311.7:c.568-121C>T	ENSP00000436695.3:n.568-121C>T
ENST00000530076.6:c.142-121C>T	ENSP00000434007.1:n.142-121C>T
ENST00000530704.6:c.*422-121C>T	ENSP00000431655.1:n.*422-121C>T
ENST00000641083.1:c.889-121C>T
ENST00000641236.1:n.1036-121C>T
ENST00000641319.1:c.*9-121C>T	ENSP00000493128.1:n.*9-121C>T
ENST00000641381.1:c.221-121C>T
ENST00000641471.1:c.886-121C>T	ENSP00000493146.1:n.886-121C>T
ENST00000641691.1:c.*651-121C>T	ENSP00000492910.1:n.*651-121C>T
ENST00000641924.1:c.*228-121C>T	ENSP00000493063.1:n.*228-121C>T
ENST00000642050.2:c.799-121C>T MANE Select	ENSP00000493153.1:n.799-121C>T
ENST00000372775.2:n.196-121C>T
ENST00000433473.7:c.799-121C>T	ENSP00000394863.3:n.799-121C>T
ENST00000439754.5:c.412-121C>T	ENSP00000403207.1:n.412-121C>T
ENST00000449045.6:c.490-121C>T	ENSP00000392293.2:n.490-121C>T
ENST00000527311.6:c.574-121C>T	ENSP00000436695.2:n.574-121C>T
ENST00000529905.5:c.799-121C>T	ENSP00000432053.1:n.799-121C>T
ENST00000530076.5:c.142-121C>T	ENSP00000434007.1:n.142-121C>T
ENST00000530704.5:c.*422-121C>T	ENSP00000431655.1:n.*422-121C>T
NM_000310.3:c.799-121C>T , LRG_690t1:c.799-121C>T	NP_000301.1:n.799-121C>T
NM_001142604.1:c.490-121C>T	NP_001136076.1:n.490-121C>T
XM_005271008.1:c.727-121C>T	XP_005271065.1:n.727-121C>T
NM_001363695.1:c.727-121C>T	NP_001350624.1:n.727-121C>T
NM_000310.4:c.799-121C>T MANE Select	NP_000301.1:n.799-121C>T
NM_001142604.2:c.490-121C>T	NP_001136076.1:n.490-121C>T
NM_001363695.2:c.727-121C>T	NP_001350624.1:n.727-121C>T