Canonical Allele Identifier: CA2573132332

Gene: PPT1

Linked Data

• ClinVar Variation Id: 1636251
• ClinVar RCV Id: RCV002126120
• dbSNP Id: rs746750426
• gnomAD v4: 1-40092390-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40092390C>A , CM000663.2:g.40092390C>A	GRCh38
NC_000001.10:g.40558062C>A , CM000663.1:g.40558062C>A	GRCh37
NC_000001.9:g.40330649C>A	NCBI36
NG_009192.1:g.10081G>T , LRG_690:g.10081G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000372779.9:c.*70+8G>T	ENSP00000361865.5:n.*70+8G>T
ENST00000433473.8:c.231+8G>T	ENSP00000394863.4:n.231+8G>T
ENST00000439754.6:c.234+8G>T	ENSP00000403207.2:n.234+8G>T
ENST00000449045.7:c.125-2878G>T	ENSP00000392293.2:n.125-2878G>T
ENST00000526547.2:c.514+8G>T
ENST00000527311.7:c.234+8G>T	ENSP00000436695.3:n.234+8G>T
ENST00000530704.6:c.234+8G>T	ENSP00000431655.1:n.234+8G>T
ENST00000641083.1:c.212+8G>T
ENST00000641236.1:n.254G>T
ENST00000641319.1:c.234+8G>T	ENSP00000493128.1:n.234+8G>T
ENST00000641471.1:c.321+8G>T	ENSP00000493146.1:n.321+8G>T
ENST00000641548.1:c.*86+8G>T	ENSP00000492984.1:n.*86+8G>T
ENST00000641691.1:c.*86+8G>T	ENSP00000492910.1:n.*86+8G>T
ENST00000641924.1:c.124+4725G>T	ENSP00000493063.1:n.124+4725G>T
ENST00000642050.2:c.234+8G>T MANE Select	ENSP00000493153.1:n.234+8G>T
ENST00000372779.8:c.321+8G>T	ENSP00000361865.4:n.321+8G>T
ENST00000433473.7:c.234+8G>T	ENSP00000394863.3:n.234+8G>T
ENST00000449045.6:c.125-2878G>T	ENSP00000392293.2:n.125-2878G>T
ENST00000526547.1:c.84+8G>T	ENSP00000436481.1:n.84+8G>T
ENST00000527311.6:c.125-333G>T	ENSP00000436695.2:n.125-333G>T
ENST00000529905.5:c.234+8G>T	ENSP00000432053.1:n.234+8G>T
ENST00000530704.5:c.234+8G>T	ENSP00000431655.1:n.234+8G>T
NM_000310.3:c.234+8G>T , LRG_690t1:c.234+8G>T	NP_000301.1:n.234+8G>T
NM_001142604.1:c.125-2878G>T	NP_001136076.1:n.125-2878G>T
XM_005271008.1:c.234+8G>T	XP_005271065.1:n.234+8G>T
NM_001363695.1:c.234+8G>T	NP_001350624.1:n.234+8G>T
NM_000310.4:c.234+8G>T MANE Select	NP_000301.1:n.234+8G>T
NM_001142604.2:c.125-2878G>T	NP_001136076.1:n.125-2878G>T
NM_001363695.2:c.234+8G>T	NP_001350624.1:n.234+8G>T