Canonical Allele Identifier: CA417322202

Gene: PPT1

Linked Data

• MyVariant Identifiers: chr1:g.40544250C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40078578C>G , CM000663.2:g.40078578C>G	GRCh38
NC_000001.10:g.40544250C>G , CM000663.1:g.40544250C>G	GRCh37
NC_000001.9:g.40316837C>G	NCBI36
NG_009192.1:g.23893G>C , LRG_690:g.23893G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.705G>C	ENSP00000394863.4:p.Val235=
ENST00000439754.6:c.708G>C	ENSP00000403207.2:p.Val236=
ENST00000449045.7:c.399G>C	ENSP00000392293.2:p.Val133=
ENST00000527311.7:c.477G>C	ENSP00000436695.3:p.Val159=
ENST00000530076.6:c.51G>C	ENSP00000434007.1:p.Val17=
ENST00000530704.6:c.*331G>C	ENSP00000431655.1:n.*331G>C
ENST00000641083.1:c.686G>C
ENST00000641236.1:n.945G>C
ENST00000641319.1:c.708G>C	ENSP00000493128.1:p.Val236=
ENST00000641381.1:c.149-1665G>C
ENST00000641471.1:c.795G>C	ENSP00000493146.1:p.Val265=
ENST00000641691.1:c.*560G>C	ENSP00000492910.1:n.*560G>C
ENST00000641924.1:c.*137G>C	ENSP00000493063.1:n.*137G>C
ENST00000642050.2:c.708G>C MANE Select	ENSP00000493153.1:p.Val236=
ENST00000372775.2:n.105G>C
ENST00000372779.8:c.795G>C	ENSP00000361865.4:p.Val265=
ENST00000433473.7:c.708G>C	ENSP00000394863.3:p.Val236=
ENST00000439754.5:c.393G>C	ENSP00000403207.1:p.Val131=
ENST00000449045.6:c.399G>C	ENSP00000392293.2:p.Val133=
ENST00000527311.6:c.483G>C	ENSP00000436695.2:p.Val161=
ENST00000529905.5:c.708G>C	ENSP00000432053.1:p.Val236=
ENST00000530076.5:c.51G>C	ENSP00000434007.1:p.Val17=
ENST00000530704.5:c.*331G>C	ENSP00000431655.1:n.*331G>C
NM_000310.3:c.708G>C , LRG_690t1:c.708G>C	NP_000301.1:p.Val236=
NM_001142604.1:c.399G>C	NP_001136076.1:p.Val133=
XM_005271008.1:c.708G>C	XP_005271065.1:p.Val236=
NM_001363695.1:c.708G>C	NP_001350624.1:p.Val236=
NM_000310.4:c.708G>C MANE Select	NP_000301.1:p.Val236=
NM_001142604.2:c.399G>C	NP_001136076.1:p.Val133=
NM_001363695.2:c.708G>C	NP_001350624.1:p.Val236=