Canonical Allele Identifier: CA339846492

Gene: PPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40076907C>G , CM000663.2:g.40076907C>G	GRCh38
NC_000001.10:g.40542579C>G , CM000663.1:g.40542579C>G	GRCh37
NC_000001.9:g.40315166C>G	NCBI36
NG_009192.1:g.25564G>C , LRG_690:g.25564G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000310.4:c.733G>C MANE Select	NP_000301.1:p.Gly245Arg
ENST00000642050.2:c.733G>C MANE Select	ENSP00000493153.1:p.Gly245Arg
NM_000310.3:c.733G>C , LRG_690t1:c.733G>C	NP_000301.1:p.Gly245Arg
NM_001142604.1:c.424G>C	NP_001136076.1:p.Gly142Arg
NM_001142604.2:c.424G>C	NP_001136076.1:p.Gly142Arg
NM_001363695.1:c.726+1653G>C	NP_001350624.1:n.726+1653G>C
NM_001363695.2:c.726+1653G>C	NP_001350624.1:n.726+1653G>C
ENST00000372775.2:n.130G>C
ENST00000433473.7:c.733G>C	ENSP00000394863.3:p.Gly245Arg
ENST00000433473.8:c.730G>C	ENSP00000394863.4:p.Gly244Arg
ENST00000439754.5:c.411+1653G>C	ENSP00000403207.1:n.411+1653G>C
ENST00000439754.6:c.726+1653G>C	ENSP00000403207.2:n.726+1653G>C
ENST00000449045.6:c.424G>C	ENSP00000392293.2:p.Gly142Arg
ENST00000449045.7:c.424G>C	ENSP00000392293.2:p.Gly142Arg
ENST00000527311.6:c.508G>C	ENSP00000436695.2:p.Gly170Arg
ENST00000527311.7:c.502G>C	ENSP00000436695.3:p.Gly168Arg
ENST00000529905.5:c.733G>C	ENSP00000432053.1:p.Gly245Arg
ENST00000530076.5:c.76G>C	ENSP00000434007.1:p.Gly26Arg
ENST00000530076.6:c.76G>C	ENSP00000434007.1:p.Gly26Arg
ENST00000530704.5:c.*356G>C	ENSP00000431655.1:n.*356G>C
ENST00000530704.6:c.*356G>C	ENSP00000431655.1:n.*356G>C
ENST00000641083.1:c.711G>C
ENST00000641236.1:n.970G>C
ENST00000641319.1:c.733G>C	ENSP00000493128.1:p.Gly245Arg
ENST00000641381.1:c.155G>C
ENST00000641471.1:c.820G>C	ENSP00000493146.1:p.Gly274Arg
ENST00000641691.1:c.*585G>C	ENSP00000492910.1:n.*585G>C
ENST00000641924.1:c.*162G>C	ENSP00000493063.1:n.*162G>C
XM_005271008.1:c.726+1653G>C	XP_005271065.1:n.726+1653G>C