Canonical Allele Identifier: CA735683962

Gene: PPT1

Linked Data

• dbSNP Id: rs1491114296
• gnomAD v3: 1-40074375-T-TCTCTTTCTTC
• gnomAD v4: 1-40074375-T-TCTCTTTCTTC
• MyVariant Identifiers: chr1:g.40540047_40540048insCTCTTTCTTC (hg19) ; chr1:g.40074375_40074376insCTCTTTCTTC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074378_40074387dup , CM000663.2:g.40074378_40074387dup	GRCh38
NC_000001.10:g.40540050_40540059dup , CM000663.1:g.40540050_40540059dup	GRCh37
NC_000001.9:g.40312637_40312646dup	NCBI36
NG_009192.1:g.28086_28095dup , LRG_690:g.28086_28095dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.796-202_796-193dup	ENSP00000394863.4:n.796-202_796-193dup
ENST00000439754.6:c.727-202_727-193dup	ENSP00000403207.2:n.727-202_727-193dup
ENST00000449045.7:c.490-202_490-193dup	ENSP00000392293.2:n.490-202_490-193dup
ENST00000527311.7:c.568-202_568-193dup	ENSP00000436695.3:n.568-202_568-193dup
ENST00000530076.6:c.142-202_142-193dup	ENSP00000434007.1:n.142-202_142-193dup
ENST00000530704.6:c.*422-202_*422-193dup	ENSP00000431655.1:n.*422-202_*422-193dup
ENST00000641083.1:c.889-202_889-193dup
ENST00000641236.1:n.1036-202_1036-193dup
ENST00000641319.1:c.*9-202_*9-193dup	ENSP00000493128.1:n.*9-202_*9-193dup
ENST00000641381.1:c.221-202_221-193dup
ENST00000641471.1:c.886-202_886-193dup	ENSP00000493146.1:n.886-202_886-193dup
ENST00000641691.1:c.*651-202_*651-193dup	ENSP00000492910.1:n.*651-202_*651-193dup
ENST00000641924.1:c.*228-202_*228-193dup	ENSP00000493063.1:n.*228-202_*228-193dup
ENST00000642050.2:c.799-202_799-193dup MANE Select	ENSP00000493153.1:n.799-202_799-193dup
ENST00000372775.2:n.196-202_196-193dup
ENST00000433473.7:c.799-202_799-193dup	ENSP00000394863.3:n.799-202_799-193dup
ENST00000439754.5:c.412-202_412-193dup	ENSP00000403207.1:n.412-202_412-193dup
ENST00000449045.6:c.490-202_490-193dup	ENSP00000392293.2:n.490-202_490-193dup
ENST00000527311.6:c.574-202_574-193dup	ENSP00000436695.2:n.574-202_574-193dup
ENST00000529905.5:c.799-202_799-193dup	ENSP00000432053.1:n.799-202_799-193dup
ENST00000530076.5:c.142-202_142-193dup	ENSP00000434007.1:n.142-202_142-193dup
ENST00000530704.5:c.*422-202_*422-193dup	ENSP00000431655.1:n.*422-202_*422-193dup
NM_000310.3:c.799-202_799-193dup , LRG_690t1:c.799-202_799-193dup	NP_000301.1:n.799-202_799-193dup
NM_001142604.1:c.490-202_490-193dup	NP_001136076.1:n.490-202_490-193dup
XM_005271008.1:c.727-202_727-193dup	XP_005271065.1:n.727-202_727-193dup
NM_001363695.1:c.727-202_727-193dup	NP_001350624.1:n.727-202_727-193dup
NM_000310.4:c.799-202_799-193dup MANE Select	NP_000301.1:n.799-202_799-193dup
NM_001142604.2:c.490-202_490-193dup	NP_001136076.1:n.490-202_490-193dup
NM_001363695.2:c.727-202_727-193dup	NP_001350624.1:n.727-202_727-193dup