Canonical Allele Identifier: CA2697552329

Gene: PPT1

Linked Data

• ClinVar Variation Id: 2747345
• ClinVar RCV Id: RCV003509358

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40091315A>G , CM000663.2:g.40091315A>G	GRCh38
NC_000001.10:g.40556987A>G , CM000663.1:g.40556987A>G	GRCh37
NC_000001.9:g.40329574A>G	NCBI36
NG_009192.1:g.11156T>C , LRG_690:g.11156T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000372779.9:c.*269+14T>C	ENSP00000361865.5:n.*269+14T>C
ENST00000433473.8:c.430+14T>C	ENSP00000394863.4:n.430+14T>C
ENST00000439754.6:c.433+14T>C	ENSP00000403207.2:n.433+14T>C
ENST00000449045.7:c.125-1803T>C	ENSP00000392293.2:n.125-1803T>C
ENST00000526547.2:c.713+14T>C
ENST00000527311.7:c.305+14T>C	ENSP00000436695.3:n.305+14T>C
ENST00000530704.6:c.433+14T>C	ENSP00000431655.1:n.433+14T>C
ENST00000641083.1:c.411+14T>C
ENST00000641236.1:n.670+14T>C
ENST00000641319.1:c.433+14T>C	ENSP00000493128.1:n.433+14T>C
ENST00000641381.1:c.45+14T>C
ENST00000641471.1:c.520+14T>C	ENSP00000493146.1:n.520+14T>C
ENST00000641548.1:c.*285+14T>C	ENSP00000492984.1:n.*285+14T>C
ENST00000641691.1:c.*285+14T>C	ENSP00000492910.1:n.*285+14T>C
ENST00000641924.1:c.124+5800T>C	ENSP00000493063.1:n.124+5800T>C
ENST00000642050.2:c.433+14T>C MANE Select	ENSP00000493153.1:n.433+14T>C
ENST00000372779.8:c.520+14T>C	ENSP00000361865.4:n.520+14T>C
ENST00000433473.7:c.433+14T>C	ENSP00000394863.3:n.433+14T>C
ENST00000439754.5:c.118+14T>C	ENSP00000403207.1:n.118+14T>C
ENST00000449045.6:c.125-1803T>C	ENSP00000392293.2:n.125-1803T>C
ENST00000526547.1:c.283+14T>C	ENSP00000436481.1:n.283+14T>C
ENST00000527311.6:c.208+14T>C	ENSP00000436695.2:n.208+14T>C
ENST00000529905.5:c.433+14T>C	ENSP00000432053.1:n.433+14T>C
ENST00000530704.5:c.433+14T>C	ENSP00000431655.1:n.433+14T>C
NM_000310.3:c.433+14T>C , LRG_690t1:c.433+14T>C	NP_000301.1:n.433+14T>C
NM_001142604.1:c.125-1803T>C	NP_001136076.1:n.125-1803T>C
XM_005271008.1:c.433+14T>C	XP_005271065.1:n.433+14T>C
NM_001363695.1:c.433+14T>C	NP_001350624.1:n.433+14T>C
NM_000310.4:c.433+14T>C MANE Select	NP_000301.1:n.433+14T>C
NM_001142604.2:c.125-1803T>C	NP_001136076.1:n.125-1803T>C
NM_001363695.2:c.433+14T>C	NP_001350624.1:n.433+14T>C