Canonical Allele Identifier: CA339845672

Gene: PPT1

Linked Data

• MyVariant Identifiers: chr1:g.40539821C>A (hg19) ; chr1:g.40074149C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074149C>A , CM000663.2:g.40074149C>A	GRCh38
NC_000001.10:g.40539821C>A , CM000663.1:g.40539821C>A	GRCh37
NC_000001.9:g.40312408C>A	NCBI36
NG_009192.1:g.28322G>T , LRG_690:g.28322G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.830G>T	ENSP00000394863.4:p.Gly277Val
ENST00000439754.6:c.761G>T	ENSP00000403207.2:p.Gly254Val
ENST00000449045.7:c.524G>T	ENSP00000392293.2:p.Gly175Val
ENST00000527311.7:c.602G>T	ENSP00000436695.3:p.Gly201Val
ENST00000530076.6:c.176G>T	ENSP00000434007.1:p.Gly59Val
ENST00000530704.6:c.*456G>T	ENSP00000431655.1:n.*456G>T
ENST00000641083.1:c.923G>T
ENST00000641236.1:n.1070G>T
ENST00000641319.1:c.*43G>T	ENSP00000493128.1:n.*43G>T
ENST00000641381.1:c.255G>T
ENST00000641471.1:c.920G>T	ENSP00000493146.1:p.Gly307Val
ENST00000641691.1:c.*685G>T	ENSP00000492910.1:n.*685G>T
ENST00000641924.1:c.*262G>T	ENSP00000493063.1:n.*262G>T
ENST00000642050.2:c.833G>T MANE Select	ENSP00000493153.1:p.Gly278Val
ENST00000372775.2:n.230G>T
ENST00000433473.7:c.833G>T	ENSP00000394863.3:p.Gly278Val
ENST00000439754.5:c.446G>T	ENSP00000403207.1:p.Gly149Val
ENST00000449045.6:c.524G>T	ENSP00000392293.2:p.Gly175Val
ENST00000527311.6:c.608G>T	ENSP00000436695.2:p.Gly203Val
ENST00000529905.5:c.833G>T	ENSP00000432053.1:p.Gly278Val
ENST00000530076.5:c.176G>T	ENSP00000434007.1:p.Gly59Val
ENST00000530704.5:c.*456G>T	ENSP00000431655.1:n.*456G>T
NM_000310.3:c.833G>T , LRG_690t1:c.833G>T	NP_000301.1:p.Gly278Val
NM_001142604.1:c.524G>T	NP_001136076.1:p.Gly175Val
XM_005271008.1:c.761G>T	XP_005271065.1:p.Gly254Val
NM_001363695.1:c.761G>T	NP_001350624.1:p.Gly254Val
NM_000310.4:c.833G>T MANE Select	NP_000301.1:p.Gly278Val
NM_001142604.2:c.524G>T	NP_001136076.1:p.Gly175Val
NM_001363695.2:c.761G>T	NP_001350624.1:p.Gly254Val