Canonical Allele Identifier: CA339846476

Gene: PPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40076899G>T , CM000663.2:g.40076899G>T	GRCh38
NC_000001.10:g.40542571G>T , CM000663.1:g.40542571G>T	GRCh37
NC_000001.9:g.40315158G>T	NCBI36
NG_009192.1:g.25572C>A , LRG_690:g.25572C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000310.4:c.741C>A MANE Select	NP_000301.1:p.Tyr247Ter
ENST00000642050.2:c.741C>A MANE Select	ENSP00000493153.1:p.Tyr247Ter
NM_000310.3:c.741C>A , LRG_690t1:c.741C>A	NP_000301.1:p.Tyr247Ter
NM_001142604.1:c.432C>A	NP_001136076.1:p.Tyr144Ter
NM_001142604.2:c.432C>A	NP_001136076.1:p.Tyr144Ter
NM_001363695.1:c.726+1661C>A	NP_001350624.1:n.726+1661C>A
NM_001363695.2:c.726+1661C>A	NP_001350624.1:n.726+1661C>A
ENST00000372775.2:n.138C>A
ENST00000433473.7:c.741C>A	ENSP00000394863.3:p.Tyr247Ter
ENST00000433473.8:c.738C>A	ENSP00000394863.4:p.Tyr246Ter
ENST00000439754.5:c.411+1661C>A	ENSP00000403207.1:n.411+1661C>A
ENST00000439754.6:c.726+1661C>A	ENSP00000403207.2:n.726+1661C>A
ENST00000449045.6:c.432C>A	ENSP00000392293.2:p.Tyr144Ter
ENST00000449045.7:c.432C>A	ENSP00000392293.2:p.Tyr144Ter
ENST00000527311.6:c.516C>A	ENSP00000436695.2:p.Tyr172Ter
ENST00000527311.7:c.510C>A	ENSP00000436695.3:p.Tyr170Ter
ENST00000529905.5:c.741C>A	ENSP00000432053.1:p.Tyr247Ter
ENST00000530076.5:c.84C>A	ENSP00000434007.1:p.Tyr28Ter
ENST00000530076.6:c.84C>A	ENSP00000434007.1:p.Tyr28Ter
ENST00000530704.5:c.*364C>A	ENSP00000431655.1:n.*364C>A
ENST00000530704.6:c.*364C>A	ENSP00000431655.1:n.*364C>A
ENST00000641083.1:c.719C>A
ENST00000641236.1:n.978C>A
ENST00000641319.1:c.741C>A	ENSP00000493128.1:p.Tyr247Ter
ENST00000641381.1:c.163C>A
ENST00000641471.1:c.828C>A	ENSP00000493146.1:p.Tyr276Ter
ENST00000641691.1:c.*593C>A	ENSP00000492910.1:n.*593C>A
ENST00000641924.1:c.*170C>A	ENSP00000493063.1:n.*170C>A
XM_005271008.1:c.726+1661C>A	XP_005271065.1:n.726+1661C>A