Canonical Allele Identifier: CA735683909

Gene: PPT1

Linked Data

• dbSNP Id: rs1216171746
• gnomAD v3: 1-40074343-CTTT-C
• gnomAD v4: 1-40074343-CTTT-C
• MyVariant Identifiers: chr1:g.40540016_40540018del (hg19) ; chr1:g.40074344_40074346del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074346_40074348del , CM000663.2:g.40074346_40074348del	GRCh38
NC_000001.10:g.40540018_40540020del , CM000663.1:g.40540018_40540020del	GRCh37
NC_000001.9:g.40312605_40312607del	NCBI36
NG_009192.1:g.28125_28127del , LRG_690:g.28125_28127del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.796-163_796-161del	ENSP00000394863.4:n.796-163_796-161del
ENST00000439754.6:c.727-163_727-161del	ENSP00000403207.2:n.727-163_727-161del
ENST00000449045.7:c.490-163_490-161del	ENSP00000392293.2:n.490-163_490-161del
ENST00000527311.7:c.568-163_568-161del	ENSP00000436695.3:n.568-163_568-161del
ENST00000530076.6:c.142-163_142-161del	ENSP00000434007.1:n.142-163_142-161del
ENST00000530704.6:c.*422-163_*422-161del	ENSP00000431655.1:n.*422-163_*422-161del
ENST00000641083.1:c.889-163_889-161del
ENST00000641236.1:n.1036-163_1036-161del
ENST00000641319.1:c.*9-163_*9-161del	ENSP00000493128.1:n.*9-163_*9-161del
ENST00000641381.1:c.221-163_221-161del
ENST00000641471.1:c.886-163_886-161del	ENSP00000493146.1:n.886-163_886-161del
ENST00000641691.1:c.*651-163_*651-161del	ENSP00000492910.1:n.*651-163_*651-161del
ENST00000641924.1:c.*228-163_*228-161del	ENSP00000493063.1:n.*228-163_*228-161del
ENST00000642050.2:c.799-163_799-161del MANE Select	ENSP00000493153.1:n.799-163_799-161del
ENST00000372775.2:n.196-163_196-161del
ENST00000433473.7:c.799-163_799-161del	ENSP00000394863.3:n.799-163_799-161del
ENST00000439754.5:c.412-163_412-161del	ENSP00000403207.1:n.412-163_412-161del
ENST00000449045.6:c.490-163_490-161del	ENSP00000392293.2:n.490-163_490-161del
ENST00000527311.6:c.574-163_574-161del	ENSP00000436695.2:n.574-163_574-161del
ENST00000529905.5:c.799-163_799-161del	ENSP00000432053.1:n.799-163_799-161del
ENST00000530076.5:c.142-163_142-161del	ENSP00000434007.1:n.142-163_142-161del
ENST00000530704.5:c.*422-163_*422-161del	ENSP00000431655.1:n.*422-163_*422-161del
NM_000310.3:c.799-163_799-161del , LRG_690t1:c.799-163_799-161del	NP_000301.1:n.799-163_799-161del
NM_001142604.1:c.490-163_490-161del	NP_001136076.1:n.490-163_490-161del
XM_005271008.1:c.727-163_727-161del	XP_005271065.1:n.727-163_727-161del
NM_001363695.1:c.727-163_727-161del	NP_001350624.1:n.727-163_727-161del
NM_000310.4:c.799-163_799-161del MANE Select	NP_000301.1:n.799-163_799-161del
NM_001142604.2:c.490-163_490-161del	NP_001136076.1:n.490-163_490-161del
NM_001363695.2:c.727-163_727-161del	NP_001350624.1:n.727-163_727-161del