Canonical Allele Identifier: CA20999556

Gene: PPT1

Linked Data

• dbSNP Id: rs191619066
• gnomAD v2: 1-40540058-C-T
• gnomAD v3: 1-40074386-C-T
• gnomAD v4: 1-40074386-C-T
• MyVariant Identifiers: chr1:g.40540058C>T (hg19) ; chr1:g.40540058_40540063delinsTTTTCT (hg19) ; chr1:g.40074386C>T (hg38) ; chr1:g.40074386_40074391delinsTTTTCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074386C>T , CM000663.2:g.40074386C>T	GRCh38
NC_000001.10:g.40540058C>T , CM000663.1:g.40540058C>T	GRCh37
NC_000001.9:g.40312645C>T	NCBI36
NG_009192.1:g.28085G>A , LRG_690:g.28085G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.796-203G>A	ENSP00000394863.4:n.796-203G>A
ENST00000439754.6:c.727-203G>A	ENSP00000403207.2:n.727-203G>A
ENST00000449045.7:c.490-203G>A	ENSP00000392293.2:n.490-203G>A
ENST00000527311.7:c.568-203G>A	ENSP00000436695.3:n.568-203G>A
ENST00000530076.6:c.142-203G>A	ENSP00000434007.1:n.142-203G>A
ENST00000530704.6:c.*422-203G>A	ENSP00000431655.1:n.*422-203G>A
ENST00000641083.1:c.889-203G>A
ENST00000641236.1:n.1036-203G>A
ENST00000641319.1:c.*9-203G>A	ENSP00000493128.1:n.*9-203G>A
ENST00000641381.1:c.221-203G>A
ENST00000641471.1:c.886-203G>A	ENSP00000493146.1:n.886-203G>A
ENST00000641691.1:c.*651-203G>A	ENSP00000492910.1:n.*651-203G>A
ENST00000641924.1:c.*228-203G>A	ENSP00000493063.1:n.*228-203G>A
ENST00000642050.2:c.799-203G>A MANE Select	ENSP00000493153.1:n.799-203G>A
ENST00000372775.2:n.196-203G>A
ENST00000433473.7:c.799-203G>A	ENSP00000394863.3:n.799-203G>A
ENST00000439754.5:c.412-203G>A	ENSP00000403207.1:n.412-203G>A
ENST00000449045.6:c.490-203G>A	ENSP00000392293.2:n.490-203G>A
ENST00000527311.6:c.574-203G>A	ENSP00000436695.2:n.574-203G>A
ENST00000529905.5:c.799-203G>A	ENSP00000432053.1:n.799-203G>A
ENST00000530076.5:c.142-203G>A	ENSP00000434007.1:n.142-203G>A
ENST00000530704.5:c.*422-203G>A	ENSP00000431655.1:n.*422-203G>A
NM_000310.3:c.799-203G>A , LRG_690t1:c.799-203G>A	NP_000301.1:n.799-203G>A
NM_001142604.1:c.490-203G>A	NP_001136076.1:n.490-203G>A
XM_005271008.1:c.727-203G>A	XP_005271065.1:n.727-203G>A
NM_001363695.1:c.727-203G>A	NP_001350624.1:n.727-203G>A
NM_000310.4:c.799-203G>A MANE Select	NP_000301.1:n.799-203G>A
NM_001142604.2:c.490-203G>A	NP_001136076.1:n.490-203G>A
NM_001363695.2:c.727-203G>A	NP_001350624.1:n.727-203G>A