Canonical Allele Identifier: CA339845329

Gene: PPT1

Linked Data

• dbSNP Id: rs1480533834
• gnomAD v2: 1-40539749-A-G
• MyVariant Identifiers: chr1:g.40539749A>G (hg19) ; chr1:g.40074077A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074077A>G , CM000663.2:g.40074077A>G	GRCh38
NC_000001.10:g.40539749A>G , CM000663.1:g.40539749A>G	GRCh37
NC_000001.9:g.40312336A>G	NCBI36
NG_009192.1:g.28394T>C , LRG_690:g.28394T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.902T>C	ENSP00000394863.4:p.Ile301Thr
ENST00000439754.6:c.833T>C	ENSP00000403207.2:p.Ile278Thr
ENST00000449045.7:c.596T>C	ENSP00000392293.2:p.Ile199Thr
ENST00000530076.6:c.248T>C	ENSP00000434007.1:p.Ile83Thr
ENST00000530704.6:c.*528T>C	ENSP00000431655.1:n.*528T>C
ENST00000641083.1:c.995T>C
ENST00000641236.1:n.1142T>C
ENST00000641319.1:c.*115T>C	ENSP00000493128.1:n.*115T>C
ENST00000641381.1:c.327T>C
ENST00000641471.1:c.992T>C	ENSP00000493146.1:p.Ile331Thr
ENST00000641691.1:c.*757T>C	ENSP00000492910.1:n.*757T>C
ENST00000641924.1:c.*334T>C	ENSP00000493063.1:n.*334T>C
ENST00000642050.2:c.905T>C MANE Select	ENSP00000493153.1:p.Ile302Thr
ENST00000372775.2:n.302T>C
ENST00000433473.7:c.905T>C	ENSP00000394863.3:p.Ile302Thr
ENST00000439754.5:c.518T>C	ENSP00000403207.1:p.Ile173Thr
ENST00000449045.6:c.596T>C	ENSP00000392293.2:p.Ile199Thr
ENST00000529905.5:c.905T>C	ENSP00000432053.1:p.Ile302Thr
ENST00000530076.5:c.248T>C	ENSP00000434007.1:p.Ile83Thr
ENST00000530704.5:c.*528T>C	ENSP00000431655.1:n.*528T>C
NM_000310.3:c.905T>C , LRG_690t1:c.905T>C	NP_000301.1:p.Ile302Thr
NM_001142604.1:c.596T>C	NP_001136076.1:p.Ile199Thr
XM_005271008.1:c.833T>C	XP_005271065.1:p.Ile278Thr
NM_001363695.1:c.833T>C	NP_001350624.1:p.Ile278Thr
NM_000310.4:c.905T>C MANE Select	NP_000301.1:p.Ile302Thr
NM_001142604.2:c.596T>C	NP_001136076.1:p.Ile199Thr
NM_001363695.2:c.833T>C	NP_001350624.1:p.Ile278Thr