Canonical Allele Identifier: CA417322263

Gene: PPT1

Linked Data

• MyVariant Identifiers: chr1:g.40546099G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40080427G>A , CM000663.2:g.40080427G>A	GRCh38
NC_000001.10:g.40546099G>A , CM000663.1:g.40546099G>A	GRCh37
NC_000001.9:g.40318686G>A	NCBI36
NG_009192.1:g.22044C>T , LRG_690:g.22044C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.594C>T	ENSP00000394863.4:p.Ser198=
ENST00000439754.6:c.597C>T	ENSP00000403207.2:p.Ser199=
ENST00000449045.7:c.288C>T	ENSP00000392293.2:p.Ser96=
ENST00000527311.7:c.366C>T	ENSP00000436695.3:p.Ser122=
ENST00000530076.6:c.-61C>T	ENSP00000434007.1:n.-61C>T
ENST00000530704.6:c.*220C>T	ENSP00000431655.1:n.*220C>T
ENST00000641083.1:c.575C>T
ENST00000641236.1:n.834C>T
ENST00000641319.1:c.597C>T	ENSP00000493128.1:p.Ser199=
ENST00000641381.1:c.149-3514C>T
ENST00000641471.1:c.684C>T	ENSP00000493146.1:p.Ser228=
ENST00000641691.1:c.*449C>T	ENSP00000492910.1:n.*449C>T
ENST00000641924.1:c.*26C>T	ENSP00000493063.1:n.*26C>T
ENST00000642050.2:c.597C>T MANE Select	ENSP00000493153.1:p.Ser199=
ENST00000372779.8:c.684C>T	ENSP00000361865.4:p.Ser228=
ENST00000433473.7:c.597C>T	ENSP00000394863.3:p.Ser199=
ENST00000439754.5:c.282C>T	ENSP00000403207.1:p.Ser94=
ENST00000449045.6:c.288C>T	ENSP00000392293.2:p.Ser96=
ENST00000527311.6:c.372C>T	ENSP00000436695.2:p.Ser124=
ENST00000529905.5:c.597C>T	ENSP00000432053.1:p.Ser199=
ENST00000530076.5:c.-61C>T	ENSP00000434007.1:n.-61C>T
ENST00000530704.5:c.*220C>T	ENSP00000431655.1:n.*220C>T
NM_000310.3:c.597C>T , LRG_690t1:c.597C>T	NP_000301.1:p.Ser199=
NM_001142604.1:c.288C>T	NP_001136076.1:p.Ser96=
XM_005271008.1:c.597C>T	XP_005271065.1:p.Ser199=
NM_001363695.1:c.597C>T	NP_001350624.1:p.Ser199=
NM_000310.4:c.597C>T MANE Select	NP_000301.1:p.Ser199=
NM_001142604.2:c.288C>T	NP_001136076.1:p.Ser96=
NM_001363695.2:c.597C>T	NP_001350624.1:p.Ser199=