Canonical Allele Identifier: CA339848785

Gene: PPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40089513C>G , CM000663.2:g.40089513C>G	GRCh38
NC_000001.10:g.40555185C>G , CM000663.1:g.40555185C>G	GRCh37
NC_000001.9:g.40327772C>G	NCBI36
NG_009192.1:g.12958G>C , LRG_690:g.12958G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000310.4:c.434-1G>C MANE Select	NP_000301.1:n.434-1G>C
ENST00000642050.2:c.434-1G>C MANE Select	ENSP00000493153.1:n.434-1G>C
NM_000310.3:c.434-1G>C , LRG_690t1:c.434-1G>C	NP_000301.1:n.434-1G>C
NM_001142604.1:c.125-1G>C	NP_001136076.1:n.125-1G>C
NM_001142604.2:c.125-1G>C	NP_001136076.1:n.125-1G>C
NM_001363695.1:c.434-1G>C	NP_001350624.1:n.434-1G>C
NM_001363695.2:c.434-1G>C	NP_001350624.1:n.434-1G>C
ENST00000372779.8:c.521-1G>C	ENSP00000361865.4:n.521-1G>C
ENST00000372779.9:c.*270-1G>C	ENSP00000361865.5:n.*270-1G>C
ENST00000433473.7:c.434-1G>C	ENSP00000394863.3:n.434-1G>C
ENST00000433473.8:c.431-1G>C	ENSP00000394863.4:n.431-1G>C
ENST00000439754.5:c.119-1G>C	ENSP00000403207.1:n.119-1G>C
ENST00000439754.6:c.434-1G>C	ENSP00000403207.2:n.434-1G>C
ENST00000449045.6:c.125-1G>C	ENSP00000392293.2:n.125-1G>C
ENST00000449045.7:c.125-1G>C	ENSP00000392293.2:n.125-1G>C
ENST00000526547.1:c.284-1G>C	ENSP00000436481.1:n.284-1G>C
ENST00000526547.2:c.714-1G>C
ENST00000527311.6:c.209-1G>C	ENSP00000436695.2:n.209-1G>C
ENST00000527311.7:c.305+1816G>C	ENSP00000436695.3:n.305+1816G>C
ENST00000529905.5:c.434-1G>C	ENSP00000432053.1:n.434-1G>C
ENST00000530704.5:c.*56G>C	ENSP00000431655.1:n.*56G>C
ENST00000530704.6:c.*56G>C	ENSP00000431655.1:n.*56G>C
ENST00000641083.1:c.412-1G>C
ENST00000641236.1:n.671-1G>C
ENST00000641319.1:c.434-1G>C	ENSP00000493128.1:n.434-1G>C
ENST00000641381.1:c.46-1G>C
ENST00000641471.1:c.521-1G>C	ENSP00000493146.1:n.521-1G>C
ENST00000641691.1:c.*286-1G>C	ENSP00000492910.1:n.*286-1G>C
ENST00000641924.1:c.124+7602G>C	ENSP00000493063.1:n.124+7602G>C
XM_005271008.1:c.434-1G>C	XP_005271065.1:n.434-1G>C