Canonical Allele Identifier: CA1164243502

Gene: PPT1

Linked Data

• dbSNP Id: rs1648421139
• gnomAD v4: 1-40073985-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40073985G>C , CM000663.2:g.40073985G>C	GRCh38
NC_000001.10:g.40539657G>C , CM000663.1:g.40539657G>C	GRCh37
NC_000001.9:g.40312244G>C	NCBI36
NG_009192.1:g.28486C>G , LRG_690:g.28486C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.*76C>G	ENSP00000394863.4:n.*76C>G
ENST00000439754.6:c.*76C>G	ENSP00000403207.2:n.*76C>G
ENST00000449045.7:c.*76C>G	ENSP00000392293.2:n.*76C>G
ENST00000530076.6:c.*76C>G	ENSP00000434007.1:n.*76C>G
ENST00000530704.6:c.*620C>G	ENSP00000431655.1:n.*620C>G
ENST00000641083.1:c.1087C>G
ENST00000641236.1:n.1234C>G
ENST00000641319.1:c.*207C>G	ENSP00000493128.1:n.*207C>G
ENST00000641381.1:c.419C>G
ENST00000641471.1:c.*76C>G	ENSP00000493146.1:n.*76C>G
ENST00000641691.1:c.*849C>G	ENSP00000492910.1:n.*849C>G
ENST00000642050.2:c.*76C>G MANE Select	ENSP00000493153.1:n.*76C>G
ENST00000372775.2:n.394C>G
ENST00000433473.7:c.*76C>G	ENSP00000394863.3:n.*76C>G
ENST00000439754.5:c.610C>G	ENSP00000403207.1:n.610C>G
ENST00000449045.6:c.*76C>G	ENSP00000392293.2:n.*76C>G
ENST00000529905.5:c.*76C>G	ENSP00000432053.1:n.*76C>G
ENST00000530704.5:c.*620C>G	ENSP00000431655.1:n.*620C>G
NM_000310.3:c.*76C>G , LRG_690t1:c.*76C>G	NP_000301.1:n.*76C>G
NM_001142604.1:c.*76C>G	NP_001136076.1:n.*76C>G
XM_005271008.1:c.*76C>G	XP_005271065.1:n.*76C>G
NM_001363695.1:c.*76C>G	NP_001350624.1:n.*76C>G
NM_000310.4:c.*76C>G MANE Select	NP_000301.1:n.*76C>G
NM_001142604.2:c.*76C>G	NP_001136076.1:n.*76C>G
NM_001363695.2:c.*76C>G	NP_001350624.1:n.*76C>G