Canonical Allele Identifier: CA2645090624

Gene: PPT1

Linked Data

• gnomAD v4: 1-40074090-A-AAAACC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074092_40074096dup , CM000663.2:g.40074092_40074096dup	GRCh38
NC_000001.10:g.40539764_40539768dup , CM000663.1:g.40539764_40539768dup	GRCh37
NC_000001.9:g.40312351_40312355dup	NCBI36
NG_009192.1:g.28376_28380dup , LRG_690:g.28376_28380dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.884_888dup	ENSP00000394863.4:p.Tyr297GlyfsTer?
ENST00000439754.6:c.815_819dup	ENSP00000403207.2:p.Tyr274GlyfsTer?
ENST00000449045.7:c.578_582dup	ENSP00000392293.2:p.Tyr195GlyfsTer?
ENST00000530076.6:c.230_234dup	ENSP00000434007.1:p.Tyr79GlyfsTer?
ENST00000530704.6:c.*510_*514dup	ENSP00000431655.1:n.*510_*514dup
ENST00000641083.1:c.977_981dup
ENST00000641236.1:n.1124_1128dup
ENST00000641319.1:c.*97_*101dup	ENSP00000493128.1:n.*97_*101dup
ENST00000641381.1:c.309_313dup
ENST00000641471.1:c.974_978dup	ENSP00000493146.1:p.Tyr327GlyfsTer?
ENST00000641691.1:c.*739_*743dup	ENSP00000492910.1:n.*739_*743dup
ENST00000641924.1:c.*316_*320dup	ENSP00000493063.1:n.*316_*320dup
ENST00000642050.2:c.887_891dup MANE Select	ENSP00000493153.1:p.Tyr298GlyfsTer?
ENST00000372775.2:n.284_288dup
ENST00000433473.7:c.887_891dup	ENSP00000394863.3:p.Tyr298GlyfsTer?
ENST00000439754.5:c.500_504dup	ENSP00000403207.1:p.Tyr169GlyfsTer?
ENST00000449045.6:c.578_582dup	ENSP00000392293.2:p.Tyr195GlyfsTer?
ENST00000529905.5:c.887_891dup	ENSP00000432053.1:p.Tyr298GlyfsTer?
ENST00000530076.5:c.230_234dup	ENSP00000434007.1:p.Tyr79GlyfsTer?
ENST00000530704.5:c.*510_*514dup	ENSP00000431655.1:n.*510_*514dup
NM_000310.3:c.887_891dup , LRG_690t1:c.887_891dup	NP_000301.1:p.Tyr298GlyfsTer?
NM_001142604.1:c.578_582dup	NP_001136076.1:p.Tyr195GlyfsTer?
XM_005271008.1:c.815_819dup	XP_005271065.1:p.Tyr274GlyfsTer?
NM_001363695.1:c.815_819dup	NP_001350624.1:p.Tyr274GlyfsTer?
NM_000310.4:c.887_891dup MANE Select	NP_000301.1:p.Tyr298GlyfsTer?
NM_001142604.2:c.578_582dup	NP_001136076.1:p.Tyr195GlyfsTer?
NM_001363695.2:c.815_819dup	NP_001350624.1:p.Tyr274GlyfsTer?