Canonical Allele Identifier: CA339845338

Gene: PPT1

Linked Data

• gnomAD v4: 1-40074078-T-G
• MyVariant Identifiers: chr1:g.40539750T>G (hg19) ; chr1:g.40074078T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074078T>G , CM000663.2:g.40074078T>G	GRCh38
NC_000001.10:g.40539750T>G , CM000663.1:g.40539750T>G	GRCh37
NC_000001.9:g.40312337T>G	NCBI36
NG_009192.1:g.28393A>C , LRG_690:g.28393A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.901A>C	ENSP00000394863.4:p.Ile301Leu
ENST00000439754.6:c.832A>C	ENSP00000403207.2:p.Ile278Leu
ENST00000449045.7:c.595A>C	ENSP00000392293.2:p.Ile199Leu
ENST00000530076.6:c.247A>C	ENSP00000434007.1:p.Ile83Leu
ENST00000530704.6:c.*527A>C	ENSP00000431655.1:n.*527A>C
ENST00000641083.1:c.994A>C
ENST00000641236.1:n.1141A>C
ENST00000641319.1:c.*114A>C	ENSP00000493128.1:n.*114A>C
ENST00000641381.1:c.326A>C
ENST00000641471.1:c.991A>C	ENSP00000493146.1:p.Ile331Leu
ENST00000641691.1:c.*756A>C	ENSP00000492910.1:n.*756A>C
ENST00000641924.1:c.*333A>C	ENSP00000493063.1:n.*333A>C
ENST00000642050.2:c.904A>C MANE Select	ENSP00000493153.1:p.Ile302Leu
ENST00000372775.2:n.301A>C
ENST00000433473.7:c.904A>C	ENSP00000394863.3:p.Ile302Leu
ENST00000439754.5:c.517A>C	ENSP00000403207.1:p.Ile173Leu
ENST00000449045.6:c.595A>C	ENSP00000392293.2:p.Ile199Leu
ENST00000529905.5:c.904A>C	ENSP00000432053.1:p.Ile302Leu
ENST00000530076.5:c.247A>C	ENSP00000434007.1:p.Ile83Leu
ENST00000530704.5:c.*527A>C	ENSP00000431655.1:n.*527A>C
NM_000310.3:c.904A>C , LRG_690t1:c.904A>C	NP_000301.1:p.Ile302Leu
NM_001142604.1:c.595A>C	NP_001136076.1:p.Ile199Leu
XM_005271008.1:c.832A>C	XP_005271065.1:p.Ile278Leu
NM_001363695.1:c.832A>C	NP_001350624.1:p.Ile278Leu
NM_000310.4:c.904A>C MANE Select	NP_000301.1:p.Ile302Leu
NM_001142604.2:c.595A>C	NP_001136076.1:p.Ile199Leu
NM_001363695.2:c.832A>C	NP_001350624.1:p.Ile278Leu