Canonical Allele Identifier: CA417322813

Gene: PPT1

Linked Data

• MyVariant Identifiers: chr1:g.40557815G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40092143G>T , CM000663.2:g.40092143G>T	GRCh38
NC_000001.10:g.40557815G>T , CM000663.1:g.40557815G>T	GRCh37
NC_000001.9:g.40330402G>T	NCBI36
NG_009192.1:g.10328C>A , LRG_690:g.10328C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372779.9:c.*100C>A	ENSP00000361865.5:n.*100C>A
ENST00000433473.8:c.261C>A	ENSP00000394863.4:p.Val87=
ENST00000439754.6:c.264C>A	ENSP00000403207.2:p.Val88=
ENST00000449045.7:c.125-2631C>A	ENSP00000392293.2:n.125-2631C>A
ENST00000526547.2:c.544C>A
ENST00000527311.7:c.234+255C>A	ENSP00000436695.3:n.234+255C>A
ENST00000530704.6:c.264C>A	ENSP00000431655.1:p.Val88=
ENST00000641083.1:c.242C>A
ENST00000641236.1:n.501C>A
ENST00000641319.1:c.264C>A	ENSP00000493128.1:p.Val88=
ENST00000641471.1:c.351C>A	ENSP00000493146.1:p.Val117=
ENST00000641548.1:c.*116C>A	ENSP00000492984.1:n.*116C>A
ENST00000641691.1:c.*116C>A	ENSP00000492910.1:n.*116C>A
ENST00000641924.1:c.124+4972C>A	ENSP00000493063.1:n.124+4972C>A
ENST00000642050.2:c.264C>A MANE Select	ENSP00000493153.1:p.Val88=
ENST00000372779.8:c.351C>A	ENSP00000361865.4:p.Val117=
ENST00000433473.7:c.264C>A	ENSP00000394863.3:p.Val88=
ENST00000449045.6:c.125-2631C>A	ENSP00000392293.2:n.125-2631C>A
ENST00000526547.1:c.114C>A	ENSP00000436481.1:p.Val38=
ENST00000527311.6:c.125-86C>A	ENSP00000436695.2:n.125-86C>A
ENST00000529905.5:c.264C>A	ENSP00000432053.1:p.Val88=
ENST00000530704.5:c.264C>A	ENSP00000431655.1:p.Val88=
NM_000310.3:c.264C>A , LRG_690t1:c.264C>A	NP_000301.1:p.Val88=
NM_001142604.1:c.125-2631C>A	NP_001136076.1:n.125-2631C>A
XM_005271008.1:c.264C>A	XP_005271065.1:p.Val88=
NM_001363695.1:c.264C>A	NP_001350624.1:p.Val88=
NM_000310.4:c.264C>A MANE Select	NP_000301.1:p.Val88=
NM_001142604.2:c.125-2631C>A	NP_001136076.1:n.125-2631C>A
NM_001363695.2:c.264C>A	NP_001350624.1:p.Val88=