Canonical Allele Identifier: CA1164243571

Gene: PPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074162T= , CM000663.2:g.40074162T=	GRCh38
NC_000001.10:g.40539834T= , CM000663.1:g.40539834T=	GRCh37
NC_000001.9:g.40312421T=	NCBI36
NG_009192.1:g.28309A= , LRG_690:g.28309A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.817A=	ENSP00000394863.4:p.Met273=
ENST00000439754.6:c.748A=	ENSP00000403207.2:p.Met250=
ENST00000449045.7:c.511A=	ENSP00000392293.2:p.Met171=
ENST00000527311.7:c.589A=	ENSP00000436695.3:p.Met197=
ENST00000530076.6:c.163A=	ENSP00000434007.1:p.Met55=
ENST00000530704.6:c.*443A=	ENSP00000431655.1:n.*443A=
ENST00000641083.1:c.910A=
ENST00000641236.1:n.1057A=
ENST00000641319.1:c.*30A=	ENSP00000493128.1:n.*30A=
ENST00000641381.1:c.242A=
ENST00000641471.1:c.907A=	ENSP00000493146.1:p.Met303=
ENST00000641691.1:c.*672A=	ENSP00000492910.1:n.*672A=
ENST00000641924.1:c.*249A=	ENSP00000493063.1:n.*249A=
ENST00000642050.2:c.820A= MANE Select	ENSP00000493153.1:p.Met274=
ENST00000372775.2:n.217A=
ENST00000433473.7:c.820A=	ENSP00000394863.3:p.Met274=
ENST00000439754.5:c.433A=	ENSP00000403207.1:p.Met145=
ENST00000449045.6:c.511A=	ENSP00000392293.2:p.Met171=
ENST00000527311.6:c.595A=	ENSP00000436695.2:p.Met199=
ENST00000529905.5:c.820A=	ENSP00000432053.1:p.Met274=
ENST00000530076.5:c.163A=	ENSP00000434007.1:p.Met55=
ENST00000530704.5:c.*443A=	ENSP00000431655.1:n.*443A=
NM_000310.3:c.820A= , LRG_690t1:c.820A=	NP_000301.1:p.Met274=
NM_001142604.1:c.511A=	NP_001136076.1:p.Met171=
XM_005271008.1:c.748A=	XP_005271065.1:p.Met250=
NM_001363695.1:c.748A=	NP_001350624.1:p.Met250=
NM_000310.4:c.820A= MANE Select	NP_000301.1:p.Met274=
NM_001142604.2:c.511A=	NP_001136076.1:p.Met171=
NM_001363695.2:c.748A=	NP_001350624.1:p.Met250=