Canonical Allele Identifier: CA339845811

Gene: PPT1

Linked Data

• MyVariant Identifiers: chr1:g.40539848A>C (hg19) ; chr1:g.40074176A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074176A>C , CM000663.2:g.40074176A>C	GRCh38
NC_000001.10:g.40539848A>C , CM000663.1:g.40539848A>C	GRCh37
NC_000001.9:g.40312435A>C	NCBI36
NG_009192.1:g.28295T>G , LRG_690:g.28295T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.803T>G	ENSP00000394863.4:p.Leu268Arg
ENST00000439754.6:c.734T>G	ENSP00000403207.2:p.Leu245Arg
ENST00000449045.7:c.497T>G	ENSP00000392293.2:p.Leu166Arg
ENST00000527311.7:c.575T>G	ENSP00000436695.3:p.Leu192Arg
ENST00000530076.6:c.149T>G	ENSP00000434007.1:p.Leu50Arg
ENST00000530704.6:c.*429T>G	ENSP00000431655.1:n.*429T>G
ENST00000641083.1:c.896T>G
ENST00000641236.1:n.1043T>G
ENST00000641319.1:c.*16T>G	ENSP00000493128.1:n.*16T>G
ENST00000641381.1:c.228T>G
ENST00000641471.1:c.893T>G	ENSP00000493146.1:p.Leu298Arg
ENST00000641691.1:c.*658T>G	ENSP00000492910.1:n.*658T>G
ENST00000641924.1:c.*235T>G	ENSP00000493063.1:n.*235T>G
ENST00000642050.2:c.806T>G MANE Select	ENSP00000493153.1:p.Leu269Arg
ENST00000372775.2:n.203T>G
ENST00000433473.7:c.806T>G	ENSP00000394863.3:p.Leu269Arg
ENST00000439754.5:c.419T>G	ENSP00000403207.1:p.Leu140Arg
ENST00000449045.6:c.497T>G	ENSP00000392293.2:p.Leu166Arg
ENST00000527311.6:c.581T>G	ENSP00000436695.2:p.Leu194Arg
ENST00000529905.5:c.806T>G	ENSP00000432053.1:p.Leu269Arg
ENST00000530076.5:c.149T>G	ENSP00000434007.1:p.Leu50Arg
ENST00000530704.5:c.*429T>G	ENSP00000431655.1:n.*429T>G
NM_000310.3:c.806T>G , LRG_690t1:c.806T>G	NP_000301.1:p.Leu269Arg
NM_001142604.1:c.497T>G	NP_001136076.1:p.Leu166Arg
XM_005271008.1:c.734T>G	XP_005271065.1:p.Leu245Arg
NM_001363695.1:c.734T>G	NP_001350624.1:p.Leu245Arg
NM_000310.4:c.806T>G MANE Select	NP_000301.1:p.Leu269Arg
NM_001142604.2:c.497T>G	NP_001136076.1:p.Leu166Arg
NM_001363695.2:c.734T>G	NP_001350624.1:p.Leu245Arg