Canonical Allele Identifier: CA339845805

Gene: PPT1

Linked Data

• MyVariant Identifiers: chr1:g.40539845C>A (hg19) ; chr1:g.40074173C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074173C>A , CM000663.2:g.40074173C>A	GRCh38
NC_000001.10:g.40539845C>A , CM000663.1:g.40539845C>A	GRCh37
NC_000001.9:g.40312432C>A	NCBI36
NG_009192.1:g.28298G>T , LRG_690:g.28298G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000433473.8:c.806G>T	ENSP00000394863.4:p.Gly269Val
ENST00000439754.6:c.737G>T	ENSP00000403207.2:p.Gly246Val
ENST00000449045.7:c.500G>T	ENSP00000392293.2:p.Gly167Val
ENST00000527311.7:c.578G>T	ENSP00000436695.3:p.Gly193Val
ENST00000530076.6:c.152G>T	ENSP00000434007.1:p.Gly51Val
ENST00000530704.6:c.*432G>T	ENSP00000431655.1:n.*432G>T
ENST00000641083.1:c.899G>T
ENST00000641236.1:n.1046G>T
ENST00000641319.1:c.*19G>T	ENSP00000493128.1:n.*19G>T
ENST00000641381.1:c.231G>T
ENST00000641471.1:c.896G>T	ENSP00000493146.1:p.Gly299Val
ENST00000641691.1:c.*661G>T	ENSP00000492910.1:n.*661G>T
ENST00000641924.1:c.*238G>T	ENSP00000493063.1:n.*238G>T
ENST00000642050.2:c.809G>T MANE Select	ENSP00000493153.1:p.Gly270Val
ENST00000372775.2:n.206G>T
ENST00000433473.7:c.809G>T	ENSP00000394863.3:p.Gly270Val
ENST00000439754.5:c.422G>T	ENSP00000403207.1:p.Gly141Val
ENST00000449045.6:c.500G>T	ENSP00000392293.2:p.Gly167Val
ENST00000527311.6:c.584G>T	ENSP00000436695.2:p.Gly195Val
ENST00000529905.5:c.809G>T	ENSP00000432053.1:p.Gly270Val
ENST00000530076.5:c.152G>T	ENSP00000434007.1:p.Gly51Val
ENST00000530704.5:c.*432G>T	ENSP00000431655.1:n.*432G>T
NM_000310.3:c.809G>T , LRG_690t1:c.809G>T	NP_000301.1:p.Gly270Val
NM_001142604.1:c.500G>T	NP_001136076.1:p.Gly167Val
XM_005271008.1:c.737G>T	XP_005271065.1:p.Gly246Val
NM_001363695.1:c.737G>T	NP_001350624.1:p.Gly246Val
NM_000310.4:c.809G>T MANE Select	NP_000301.1:p.Gly270Val
NM_001142604.2:c.500G>T	NP_001136076.1:p.Gly167Val
NM_001363695.2:c.737G>T	NP_001350624.1:p.Gly246Val