Canonical Allele Identifier: CA2645092767

Gene: PPT1

Linked Data

• gnomAD v4: 1-40092239-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40092239A>T , CM000663.2:g.40092239A>T	GRCh38
NC_000001.10:g.40557911A>T , CM000663.1:g.40557911A>T	GRCh37
NC_000001.9:g.40330498A>T	NCBI36
NG_009192.1:g.10232T>A , LRG_690:g.10232T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372779.9:c.*71-67T>A	ENSP00000361865.5:n.*71-67T>A
ENST00000433473.8:c.232-67T>A	ENSP00000394863.4:n.232-67T>A
ENST00000439754.6:c.235-67T>A	ENSP00000403207.2:n.235-67T>A
ENST00000449045.7:c.125-2727T>A	ENSP00000392293.2:n.125-2727T>A
ENST00000526547.2:c.515-67T>A
ENST00000527311.7:c.234+159T>A	ENSP00000436695.3:n.234+159T>A
ENST00000530704.6:c.235-67T>A	ENSP00000431655.1:n.235-67T>A
ENST00000641083.1:c.213-67T>A
ENST00000641236.1:n.405T>A
ENST00000641319.1:c.235-67T>A	ENSP00000493128.1:n.235-67T>A
ENST00000641471.1:c.322-67T>A	ENSP00000493146.1:n.322-67T>A
ENST00000641548.1:c.*87-67T>A	ENSP00000492984.1:n.*87-67T>A
ENST00000641691.1:c.*87-67T>A	ENSP00000492910.1:n.*87-67T>A
ENST00000641924.1:c.124+4876T>A	ENSP00000493063.1:n.124+4876T>A
ENST00000642050.2:c.235-67T>A MANE Select	ENSP00000493153.1:n.235-67T>A
ENST00000372779.8:c.322-67T>A	ENSP00000361865.4:n.322-67T>A
ENST00000433473.7:c.235-67T>A	ENSP00000394863.3:n.235-67T>A
ENST00000449045.6:c.125-2727T>A	ENSP00000392293.2:n.125-2727T>A
ENST00000526547.1:c.85-67T>A	ENSP00000436481.1:n.85-67T>A
ENST00000527311.6:c.125-182T>A	ENSP00000436695.2:n.125-182T>A
ENST00000529905.5:c.235-67T>A	ENSP00000432053.1:n.235-67T>A
ENST00000530704.5:c.235-67T>A	ENSP00000431655.1:n.235-67T>A
NM_000310.3:c.235-67T>A , LRG_690t1:c.235-67T>A	NP_000301.1:n.235-67T>A
NM_001142604.1:c.125-2727T>A	NP_001136076.1:n.125-2727T>A
XM_005271008.1:c.235-67T>A	XP_005271065.1:n.235-67T>A
NM_001363695.1:c.235-67T>A	NP_001350624.1:n.235-67T>A
NM_000310.4:c.235-67T>A MANE Select	NP_000301.1:n.235-67T>A
NM_001142604.2:c.125-2727T>A	NP_001136076.1:n.125-2727T>A
NM_001363695.2:c.235-67T>A	NP_001350624.1:n.235-67T>A