Canonical Allele Identifier: CA339845430

Gene: PPT1

Linked Data

• MyVariant Identifiers: chr1:g.40539767C>G (hg19) ; chr1:g.40074095C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074095C>G , CM000663.2:g.40074095C>G	GRCh38
NC_000001.10:g.40539767C>G , CM000663.1:g.40539767C>G	GRCh37
NC_000001.9:g.40312354C>G	NCBI36
NG_009192.1:g.28376G>C , LRG_690:g.28376G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.884G>C	ENSP00000394863.4:p.Trp295Ser
ENST00000439754.6:c.815G>C	ENSP00000403207.2:p.Trp272Ser
ENST00000449045.7:c.578G>C	ENSP00000392293.2:p.Trp193Ser
ENST00000530076.6:c.230G>C	ENSP00000434007.1:p.Trp77Ser
ENST00000530704.6:c.*510G>C	ENSP00000431655.1:n.*510G>C
ENST00000641083.1:c.977G>C
ENST00000641236.1:n.1124G>C
ENST00000641319.1:c.*97G>C	ENSP00000493128.1:n.*97G>C
ENST00000641381.1:c.309G>C
ENST00000641471.1:c.974G>C	ENSP00000493146.1:p.Trp325Ser
ENST00000641691.1:c.*739G>C	ENSP00000492910.1:n.*739G>C
ENST00000641924.1:c.*316G>C	ENSP00000493063.1:n.*316G>C
ENST00000642050.2:c.887G>C MANE Select	ENSP00000493153.1:p.Trp296Ser
ENST00000372775.2:n.284G>C
ENST00000433473.7:c.887G>C	ENSP00000394863.3:p.Trp296Ser
ENST00000439754.5:c.500G>C	ENSP00000403207.1:p.Trp167Ser
ENST00000449045.6:c.578G>C	ENSP00000392293.2:p.Trp193Ser
ENST00000529905.5:c.887G>C	ENSP00000432053.1:p.Trp296Ser
ENST00000530076.5:c.230G>C	ENSP00000434007.1:p.Trp77Ser
ENST00000530704.5:c.*510G>C	ENSP00000431655.1:n.*510G>C
NM_000310.3:c.887G>C , LRG_690t1:c.887G>C	NP_000301.1:p.Trp296Ser
NM_001142604.1:c.578G>C	NP_001136076.1:p.Trp193Ser
XM_005271008.1:c.815G>C	XP_005271065.1:p.Trp272Ser
NM_001363695.1:c.815G>C	NP_001350624.1:p.Trp272Ser
NM_000310.4:c.887G>C MANE Select	NP_000301.1:p.Trp296Ser
NM_001142604.2:c.578G>C	NP_001136076.1:p.Trp193Ser
NM_001363695.2:c.815G>C	NP_001350624.1:p.Trp272Ser