Canonical Allele Identifier: CA1164248589

Gene: PPT1

Linked Data

• dbSNP Id: rs1649913737
• gnomAD v4: 1-40097251-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40097251A>G , CM000663.2:g.40097251A>G	GRCh38
NC_000001.10:g.40562923A>G , CM000663.1:g.40562923A>G	GRCh37
NC_000001.9:g.40335510A>G	NCBI36
NG_009192.1:g.5220T>C , LRG_690:g.5220T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.-13T>C	ENSP00000394863.4:n.-13T>C
ENST00000439754.6:c.-13T>C	ENSP00000403207.2:n.-13T>C
ENST00000449045.7:c.-13T>C	ENSP00000392293.2:n.-13T>C
ENST00000527311.7:c.-13T>C	ENSP00000436695.3:n.-13T>C
ENST00000530704.6:c.-13T>C	ENSP00000431655.1:n.-13T>C
ENST00000641319.1:c.-13T>C	ENSP00000493128.1:n.-13T>C
ENST00000641548.1:c.-13T>C	ENSP00000492984.1:n.-13T>C
ENST00000641691.1:c.-13T>C	ENSP00000492910.1:n.-13T>C
ENST00000642050.2:c.-13T>C MANE Select	ENSP00000493153.1:n.-13T>C
ENST00000372779.8:c.-13T>C	ENSP00000361865.4:n.-13T>C
ENST00000433473.7:c.-13T>C	ENSP00000394863.3:n.-13T>C
ENST00000449045.6:c.-13T>C	ENSP00000392293.2:n.-13T>C
ENST00000530704.5:c.-13T>C	ENSP00000431655.1:n.-13T>C
NM_000310.3:c.-13T>C , LRG_690t1:c.-13T>C	NP_000301.1:n.-13T>C
NM_001142604.1:c.-13T>C	NP_001136076.1:n.-13T>C
XM_005271008.1:c.-13T>C	XP_005271065.1:n.-13T>C
NM_001363695.1:c.-13T>C	NP_001350624.1:n.-13T>C
NM_000310.4:c.-13T>C MANE Select	NP_000301.1:n.-13T>C
NM_001142604.2:c.-13T>C	NP_001136076.1:n.-13T>C
NM_001363695.2:c.-13T>C	NP_001350624.1:n.-13T>C