Canonical Allele Identifier: CA735683870

Gene: PPT1

Linked Data

• dbSNP Id: rs1355627830
• gnomAD v3: 1-40074308-A-AC
• gnomAD v4: 1-40074308-A-AC
• MyVariant Identifiers: chr1:g.40539980_40539981insC (hg19) ; chr1:g.40074308_40074309insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074308_40074309insC , CM000663.2:g.40074308_40074309insC	GRCh38
NC_000001.10:g.40539980_40539981insC , CM000663.1:g.40539980_40539981insC	GRCh37
NC_000001.9:g.40312567_40312568insC	NCBI36
NG_009192.1:g.28162_28163insG , LRG_690:g.28162_28163insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.796-126_796-125insG	ENSP00000394863.4:n.796-126_796-125insG
ENST00000439754.6:c.727-126_727-125insG	ENSP00000403207.2:n.727-126_727-125insG
ENST00000449045.7:c.490-126_490-125insG	ENSP00000392293.2:n.490-126_490-125insG
ENST00000527311.7:c.568-126_568-125insG	ENSP00000436695.3:n.568-126_568-125insG
ENST00000530076.6:c.142-126_142-125insG	ENSP00000434007.1:n.142-126_142-125insG
ENST00000530704.6:c.*422-126_*422-125insG	ENSP00000431655.1:n.*422-126_*422-125insG
ENST00000641083.1:c.889-126_889-125insG
ENST00000641236.1:n.1036-126_1036-125insG
ENST00000641319.1:c.*9-126_*9-125insG	ENSP00000493128.1:n.*9-126_*9-125insG
ENST00000641381.1:c.221-126_221-125insG
ENST00000641471.1:c.886-126_886-125insG	ENSP00000493146.1:n.886-126_886-125insG
ENST00000641691.1:c.*651-126_*651-125insG	ENSP00000492910.1:n.*651-126_*651-125insG
ENST00000641924.1:c.*228-126_*228-125insG	ENSP00000493063.1:n.*228-126_*228-125insG
ENST00000642050.2:c.799-126_799-125insG MANE Select	ENSP00000493153.1:n.799-126_799-125insG
ENST00000372775.2:n.196-126_196-125insG
ENST00000433473.7:c.799-126_799-125insG	ENSP00000394863.3:n.799-126_799-125insG
ENST00000439754.5:c.412-126_412-125insG	ENSP00000403207.1:n.412-126_412-125insG
ENST00000449045.6:c.490-126_490-125insG	ENSP00000392293.2:n.490-126_490-125insG
ENST00000527311.6:c.574-126_574-125insG	ENSP00000436695.2:n.574-126_574-125insG
ENST00000529905.5:c.799-126_799-125insG	ENSP00000432053.1:n.799-126_799-125insG
ENST00000530076.5:c.142-126_142-125insG	ENSP00000434007.1:n.142-126_142-125insG
ENST00000530704.5:c.*422-126_*422-125insG	ENSP00000431655.1:n.*422-126_*422-125insG
NM_000310.3:c.799-126_799-125insG , LRG_690t1:c.799-126_799-125insG	NP_000301.1:n.799-126_799-125insG
NM_001142604.1:c.490-126_490-125insG	NP_001136076.1:n.490-126_490-125insG
XM_005271008.1:c.727-126_727-125insG	XP_005271065.1:n.727-126_727-125insG
NM_001363695.1:c.727-126_727-125insG	NP_001350624.1:n.727-126_727-125insG
NM_000310.4:c.799-126_799-125insG MANE Select	NP_000301.1:n.799-126_799-125insG
NM_001142604.2:c.490-126_490-125insG	NP_001136076.1:n.490-126_490-125insG
NM_001363695.2:c.727-126_727-125insG	NP_001350624.1:n.727-126_727-125insG