Canonical Allele Identifier: CA417322231

Gene: PPT1

Linked Data

• MyVariant Identifiers: chr1:g.40544303G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40078631G>A , CM000663.2:g.40078631G>A	GRCh38
NC_000001.10:g.40544303G>A , CM000663.1:g.40544303G>A	GRCh37
NC_000001.9:g.40316890G>A	NCBI36
NG_009192.1:g.23840C>T , LRG_690:g.23840C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.652C>T	ENSP00000394863.4:p.Leu218=
ENST00000439754.6:c.655C>T	ENSP00000403207.2:p.Leu219=
ENST00000449045.7:c.346C>T	ENSP00000392293.2:p.Leu116=
ENST00000527311.7:c.424C>T	ENSP00000436695.3:p.Leu142=
ENST00000530076.6:c.-3C>T	ENSP00000434007.1:n.-3C>T
ENST00000530704.6:c.*278C>T	ENSP00000431655.1:n.*278C>T
ENST00000641083.1:c.633C>T
ENST00000641236.1:n.892C>T
ENST00000641319.1:c.655C>T	ENSP00000493128.1:p.Leu219=
ENST00000641381.1:c.149-1718C>T
ENST00000641471.1:c.742C>T	ENSP00000493146.1:p.Leu248=
ENST00000641691.1:c.*507C>T	ENSP00000492910.1:n.*507C>T
ENST00000641924.1:c.*84C>T	ENSP00000493063.1:n.*84C>T
ENST00000642050.2:c.655C>T MANE Select	ENSP00000493153.1:p.Leu219=
ENST00000372775.2:n.52C>T
ENST00000372779.8:c.742C>T	ENSP00000361865.4:p.Leu248=
ENST00000433473.7:c.655C>T	ENSP00000394863.3:p.Leu219=
ENST00000439754.5:c.340C>T	ENSP00000403207.1:p.Leu114=
ENST00000449045.6:c.346C>T	ENSP00000392293.2:p.Leu116=
ENST00000527311.6:c.430C>T	ENSP00000436695.2:p.Leu144=
ENST00000529905.5:c.655C>T	ENSP00000432053.1:p.Leu219=
ENST00000530076.5:c.-3C>T	ENSP00000434007.1:n.-3C>T
ENST00000530704.5:c.*278C>T	ENSP00000431655.1:n.*278C>T
NM_000310.3:c.655C>T , LRG_690t1:c.655C>T	NP_000301.1:p.Leu219=
NM_001142604.1:c.346C>T	NP_001136076.1:p.Leu116=
XM_005271008.1:c.655C>T	XP_005271065.1:p.Leu219=
NM_001363695.1:c.655C>T	NP_001350624.1:p.Leu219=
NM_000310.4:c.655C>T MANE Select	NP_000301.1:p.Leu219=
NM_001142604.2:c.346C>T	NP_001136076.1:p.Leu116=
NM_001363695.2:c.655C>T	NP_001350624.1:p.Leu219=