Canonical Allele Identifier: CA417322279

Gene: PPT1

Linked Data

• MyVariant Identifiers: chr1:g.40546132G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40080460G>A , CM000663.2:g.40080460G>A	GRCh38
NC_000001.10:g.40546132G>A , CM000663.1:g.40546132G>A	GRCh37
NC_000001.9:g.40318719G>A	NCBI36
NG_009192.1:g.22011C>T , LRG_690:g.22011C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372779.9:c.*400C>T	ENSP00000361865.5:n.*400C>T
ENST00000433473.8:c.561C>T	ENSP00000394863.4:p.Asp187=
ENST00000439754.6:c.564C>T	ENSP00000403207.2:p.Asp188=
ENST00000449045.7:c.255C>T	ENSP00000392293.2:p.Asp85=
ENST00000527311.7:c.333C>T	ENSP00000436695.3:p.Asp111=
ENST00000530076.6:c.-94C>T	ENSP00000434007.1:n.-94C>T
ENST00000530704.6:c.*187C>T	ENSP00000431655.1:n.*187C>T
ENST00000641083.1:c.542C>T
ENST00000641236.1:n.801C>T
ENST00000641319.1:c.564C>T	ENSP00000493128.1:p.Asp188=
ENST00000641381.1:c.149-3547C>T
ENST00000641471.1:c.651C>T	ENSP00000493146.1:p.Asp217=
ENST00000641691.1:c.*416C>T	ENSP00000492910.1:n.*416C>T
ENST00000641924.1:c.152C>T	ENSP00000493063.1:p.Thr51Ile
ENST00000642050.2:c.564C>T MANE Select	ENSP00000493153.1:p.Asp188=
ENST00000372779.8:c.651C>T	ENSP00000361865.4:p.Asp217=
ENST00000433473.7:c.564C>T	ENSP00000394863.3:p.Asp188=
ENST00000439754.5:c.249C>T	ENSP00000403207.1:p.Asp83=
ENST00000449045.6:c.255C>T	ENSP00000392293.2:p.Asp85=
ENST00000527311.6:c.339C>T	ENSP00000436695.2:p.Asp113=
ENST00000529905.5:c.564C>T	ENSP00000432053.1:p.Asp188=
ENST00000530076.5:c.-94C>T	ENSP00000434007.1:n.-94C>T
ENST00000530704.5:c.*187C>T	ENSP00000431655.1:n.*187C>T
NM_000310.3:c.564C>T , LRG_690t1:c.564C>T	NP_000301.1:p.Asp188=
NM_001142604.1:c.255C>T	NP_001136076.1:p.Asp85=
XM_005271008.1:c.564C>T	XP_005271065.1:p.Asp188=
NM_001363695.1:c.564C>T	NP_001350624.1:p.Asp188=
NM_000310.4:c.564C>T MANE Select	NP_000301.1:p.Asp188=
NM_001142604.2:c.255C>T	NP_001136076.1:p.Asp85=
NM_001363695.2:c.564C>T	NP_001350624.1:p.Asp188=