Canonical Allele Identifier: CA339845317

Gene: PPT1

Linked Data

• MyVariant Identifiers: chr1:g.40539746G>C (hg19) ; chr1:g.40074074G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074074G>C , CM000663.2:g.40074074G>C	GRCh38
NC_000001.10:g.40539746G>C , CM000663.1:g.40539746G>C	GRCh37
NC_000001.9:g.40312333G>C	NCBI36
NG_009192.1:g.28397C>G , LRG_690:g.28397C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.905C>G	ENSP00000394863.4:p.Pro302Arg
ENST00000439754.6:c.836C>G	ENSP00000403207.2:p.Pro279Arg
ENST00000449045.7:c.599C>G	ENSP00000392293.2:p.Pro200Arg
ENST00000530076.6:c.251C>G	ENSP00000434007.1:p.Pro84Arg
ENST00000530704.6:c.*531C>G	ENSP00000431655.1:n.*531C>G
ENST00000641083.1:c.998C>G
ENST00000641236.1:n.1145C>G
ENST00000641319.1:c.*118C>G	ENSP00000493128.1:n.*118C>G
ENST00000641381.1:c.330C>G
ENST00000641471.1:c.995C>G	ENSP00000493146.1:p.Pro332Arg
ENST00000641691.1:c.*760C>G	ENSP00000492910.1:n.*760C>G
ENST00000641924.1:c.*337C>G	ENSP00000493063.1:n.*337C>G
ENST00000642050.2:c.908C>G MANE Select	ENSP00000493153.1:p.Pro303Arg
ENST00000372775.2:n.305C>G
ENST00000433473.7:c.908C>G	ENSP00000394863.3:p.Pro303Arg
ENST00000439754.5:c.521C>G	ENSP00000403207.1:p.Pro174Arg
ENST00000449045.6:c.599C>G	ENSP00000392293.2:p.Pro200Arg
ENST00000529905.5:c.908C>G	ENSP00000432053.1:p.Pro303Arg
ENST00000530076.5:c.251C>G	ENSP00000434007.1:p.Pro84Arg
ENST00000530704.5:c.*531C>G	ENSP00000431655.1:n.*531C>G
NM_000310.3:c.908C>G , LRG_690t1:c.908C>G	NP_000301.1:p.Pro303Arg
NM_001142604.1:c.599C>G	NP_001136076.1:p.Pro200Arg
XM_005271008.1:c.836C>G	XP_005271065.1:p.Pro279Arg
NM_001363695.1:c.836C>G	NP_001350624.1:p.Pro279Arg
NM_000310.4:c.908C>G MANE Select	NP_000301.1:p.Pro303Arg
NM_001142604.2:c.599C>G	NP_001136076.1:p.Pro200Arg
NM_001363695.2:c.836C>G	NP_001350624.1:p.Pro279Arg