Canonical Allele Identifier: CA1149119584

Gene: PPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40092050T= , CM000663.2:g.40092050T=	GRCh38
NC_000001.10:g.40557722T= , CM000663.1:g.40557722T=	GRCh37
NC_000001.9:g.40330309T=	NCBI36
NG_009192.1:g.10421A= , LRG_690:g.10421A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372779.9:c.*193A=	ENSP00000361865.5:n.*193A=
ENST00000433473.8:c.354A=	ENSP00000394863.4:p.Gln118=
ENST00000439754.6:c.357A=	ENSP00000403207.2:p.Gln119=
ENST00000449045.7:c.125-2538A=	ENSP00000392293.2:n.125-2538A=
ENST00000526547.2:c.637A=
ENST00000527311.7:c.234+348A=	ENSP00000436695.3:n.234+348A=
ENST00000530704.6:c.357A=	ENSP00000431655.1:p.Gln119=
ENST00000641083.1:c.335A=
ENST00000641236.1:n.594A=
ENST00000641319.1:c.357A=	ENSP00000493128.1:p.Gln119=
ENST00000641471.1:c.444A=	ENSP00000493146.1:p.Gln148=
ENST00000641548.1:c.*209A=	ENSP00000492984.1:n.*209A=
ENST00000641691.1:c.*209A=	ENSP00000492910.1:n.*209A=
ENST00000641924.1:c.124+5065A=	ENSP00000493063.1:n.124+5065A=
ENST00000642050.2:c.357A= MANE Select	ENSP00000493153.1:p.Gln119=
ENST00000372779.8:c.444A=	ENSP00000361865.4:p.Gln148=
ENST00000433473.7:c.357A=	ENSP00000394863.3:p.Gln119=
ENST00000439754.5:c.42A=	ENSP00000403207.1:p.Gln14=
ENST00000449045.6:c.125-2538A=	ENSP00000392293.2:n.125-2538A=
ENST00000526547.1:c.207A=	ENSP00000436481.1:p.Gln69=
ENST00000527311.6:c.132A=	ENSP00000436695.2:p.Gln44=
ENST00000529905.5:c.357A=	ENSP00000432053.1:p.Gln119=
ENST00000530704.5:c.357A=	ENSP00000431655.1:p.Gln119=
NM_000310.3:c.357A= , LRG_690t1:c.357A=	NP_000301.1:p.Gln119=
NM_001142604.1:c.125-2538A=	NP_001136076.1:n.125-2538A=
XM_005271008.1:c.357A=	XP_005271065.1:p.Gln119=
NM_001363695.1:c.357A=	NP_001350624.1:p.Gln119=
NM_000310.4:c.357A= MANE Select	NP_000301.1:p.Gln119=
NM_001142604.2:c.125-2538A=	NP_001136076.1:n.125-2538A=
NM_001363695.2:c.357A=	NP_001350624.1:p.Gln119=