Canonical Allele Identifier: CA1164252446

Gene: PPT1

Linked Data

• dbSNP Id: rs1649604212

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40092228T>G , CM000663.2:g.40092228T>G	GRCh38
NC_000001.10:g.40557900T>G , CM000663.1:g.40557900T>G	GRCh37
NC_000001.9:g.40330487T>G	NCBI36
NG_009192.1:g.10243A>C , LRG_690:g.10243A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372779.9:c.*71-56A>C	ENSP00000361865.5:n.*71-56A>C
ENST00000433473.8:c.232-56A>C	ENSP00000394863.4:n.232-56A>C
ENST00000439754.6:c.235-56A>C	ENSP00000403207.2:n.235-56A>C
ENST00000449045.7:c.125-2716A>C	ENSP00000392293.2:n.125-2716A>C
ENST00000526547.2:c.515-56A>C
ENST00000527311.7:c.234+170A>C	ENSP00000436695.3:n.234+170A>C
ENST00000530704.6:c.235-56A>C	ENSP00000431655.1:n.235-56A>C
ENST00000641083.1:c.213-56A>C
ENST00000641236.1:n.416A>C
ENST00000641319.1:c.235-56A>C	ENSP00000493128.1:n.235-56A>C
ENST00000641471.1:c.322-56A>C	ENSP00000493146.1:n.322-56A>C
ENST00000641548.1:c.*87-56A>C	ENSP00000492984.1:n.*87-56A>C
ENST00000641691.1:c.*87-56A>C	ENSP00000492910.1:n.*87-56A>C
ENST00000641924.1:c.124+4887A>C	ENSP00000493063.1:n.124+4887A>C
ENST00000642050.2:c.235-56A>C MANE Select	ENSP00000493153.1:n.235-56A>C
ENST00000372779.8:c.322-56A>C	ENSP00000361865.4:n.322-56A>C
ENST00000433473.7:c.235-56A>C	ENSP00000394863.3:n.235-56A>C
ENST00000449045.6:c.125-2716A>C	ENSP00000392293.2:n.125-2716A>C
ENST00000526547.1:c.85-56A>C	ENSP00000436481.1:n.85-56A>C
ENST00000527311.6:c.125-171A>C	ENSP00000436695.2:n.125-171A>C
ENST00000529905.5:c.235-56A>C	ENSP00000432053.1:n.235-56A>C
ENST00000530704.5:c.235-56A>C	ENSP00000431655.1:n.235-56A>C
NM_000310.3:c.235-56A>C , LRG_690t1:c.235-56A>C	NP_000301.1:n.235-56A>C
NM_001142604.1:c.125-2716A>C	NP_001136076.1:n.125-2716A>C
XM_005271008.1:c.235-56A>C	XP_005271065.1:n.235-56A>C
NM_001363695.1:c.235-56A>C	NP_001350624.1:n.235-56A>C
NM_000310.4:c.235-56A>C MANE Select	NP_000301.1:n.235-56A>C
NM_001142604.2:c.125-2716A>C	NP_001136076.1:n.125-2716A>C
NM_001363695.2:c.235-56A>C	NP_001350624.1:n.235-56A>C