Canonical Allele Identifier: CA2574329818

Gene: PPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40092267A>G , CM000663.2:g.40092267A>G	GRCh38
NC_000001.10:g.40557939A>G , CM000663.1:g.40557939A>G	GRCh37
NC_000001.9:g.40330526A>G	NCBI36
NG_009192.1:g.10204T>C , LRG_690:g.10204T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372779.9:c.*71-95T>C	ENSP00000361865.5:n.*71-95T>C
ENST00000433473.8:c.232-95T>C	ENSP00000394863.4:n.232-95T>C
ENST00000439754.6:c.235-95T>C	ENSP00000403207.2:n.235-95T>C
ENST00000449045.7:c.125-2755T>C	ENSP00000392293.2:n.125-2755T>C
ENST00000526547.2:c.515-95T>C
ENST00000527311.7:c.234+131T>C	ENSP00000436695.3:n.234+131T>C
ENST00000530704.6:c.235-95T>C	ENSP00000431655.1:n.235-95T>C
ENST00000641083.1:c.213-95T>C
ENST00000641236.1:n.377T>C
ENST00000641319.1:c.235-95T>C	ENSP00000493128.1:n.235-95T>C
ENST00000641471.1:c.322-95T>C	ENSP00000493146.1:n.322-95T>C
ENST00000641548.1:c.*87-95T>C	ENSP00000492984.1:n.*87-95T>C
ENST00000641691.1:c.*87-95T>C	ENSP00000492910.1:n.*87-95T>C
ENST00000641924.1:c.124+4848T>C	ENSP00000493063.1:n.124+4848T>C
ENST00000642050.2:c.235-95T>C MANE Select	ENSP00000493153.1:n.235-95T>C
ENST00000372779.8:c.322-95T>C	ENSP00000361865.4:n.322-95T>C
ENST00000433473.7:c.235-95T>C	ENSP00000394863.3:n.235-95T>C
ENST00000449045.6:c.125-2755T>C	ENSP00000392293.2:n.125-2755T>C
ENST00000526547.1:c.85-95T>C	ENSP00000436481.1:n.85-95T>C
ENST00000527311.6:c.125-210T>C	ENSP00000436695.2:n.125-210T>C
ENST00000529905.5:c.235-95T>C	ENSP00000432053.1:n.235-95T>C
ENST00000530704.5:c.235-95T>C	ENSP00000431655.1:n.235-95T>C
NM_000310.3:c.235-95T>C , LRG_690t1:c.235-95T>C	NP_000301.1:n.235-95T>C
NM_001142604.1:c.125-2755T>C	NP_001136076.1:n.125-2755T>C
XM_005271008.1:c.235-95T>C	XP_005271065.1:n.235-95T>C
NM_001363695.1:c.235-95T>C	NP_001350624.1:n.235-95T>C
NM_000310.4:c.235-95T>C MANE Select	NP_000301.1:n.235-95T>C
NM_001142604.2:c.125-2755T>C	NP_001136076.1:n.125-2755T>C
NM_001363695.2:c.235-95T>C	NP_001350624.1:n.235-95T>C