Canonical Allele Identifier: CA735683969

Gene: PPT1

Linked Data

• dbSNP Id: rs1213065704
• gnomAD v3: 1-40074382-CTTCCT-C
• gnomAD v4: 1-40074382-CTTCCT-C
• MyVariant Identifiers: chr1:g.40540055_40540059del (hg19) ; chr1:g.40074383_40074387del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074386_40074390del , CM000663.2:g.40074386_40074390del	GRCh38
NC_000001.10:g.40540058_40540062del , CM000663.1:g.40540058_40540062del	GRCh37
NC_000001.9:g.40312645_40312649del	NCBI36
NG_009192.1:g.28084_28088del , LRG_690:g.28084_28088del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.796-204_796-200del	ENSP00000394863.4:n.796-204_796-200del
ENST00000439754.6:c.727-204_727-200del	ENSP00000403207.2:n.727-204_727-200del
ENST00000449045.7:c.490-204_490-200del	ENSP00000392293.2:n.490-204_490-200del
ENST00000527311.7:c.568-204_568-200del	ENSP00000436695.3:n.568-204_568-200del
ENST00000530076.6:c.142-204_142-200del	ENSP00000434007.1:n.142-204_142-200del
ENST00000530704.6:c.*422-204_*422-200del	ENSP00000431655.1:n.*422-204_*422-200del
ENST00000641083.1:c.889-204_889-200del
ENST00000641236.1:n.1036-204_1036-200del
ENST00000641319.1:c.*9-204_*9-200del	ENSP00000493128.1:n.*9-204_*9-200del
ENST00000641381.1:c.221-204_221-200del
ENST00000641471.1:c.886-204_886-200del	ENSP00000493146.1:n.886-204_886-200del
ENST00000641691.1:c.*651-204_*651-200del	ENSP00000492910.1:n.*651-204_*651-200del
ENST00000641924.1:c.*228-204_*228-200del	ENSP00000493063.1:n.*228-204_*228-200del
ENST00000642050.2:c.799-204_799-200del MANE Select	ENSP00000493153.1:n.799-204_799-200del
ENST00000372775.2:n.196-204_196-200del
ENST00000433473.7:c.799-204_799-200del	ENSP00000394863.3:n.799-204_799-200del
ENST00000439754.5:c.412-204_412-200del	ENSP00000403207.1:n.412-204_412-200del
ENST00000449045.6:c.490-204_490-200del	ENSP00000392293.2:n.490-204_490-200del
ENST00000527311.6:c.574-204_574-200del	ENSP00000436695.2:n.574-204_574-200del
ENST00000529905.5:c.799-204_799-200del	ENSP00000432053.1:n.799-204_799-200del
ENST00000530076.5:c.142-204_142-200del	ENSP00000434007.1:n.142-204_142-200del
ENST00000530704.5:c.*422-204_*422-200del	ENSP00000431655.1:n.*422-204_*422-200del
NM_000310.3:c.799-204_799-200del , LRG_690t1:c.799-204_799-200del	NP_000301.1:n.799-204_799-200del
NM_001142604.1:c.490-204_490-200del	NP_001136076.1:n.490-204_490-200del
XM_005271008.1:c.727-204_727-200del	XP_005271065.1:n.727-204_727-200del
NM_001363695.1:c.727-204_727-200del	NP_001350624.1:n.727-204_727-200del
NM_000310.4:c.799-204_799-200del MANE Select	NP_000301.1:n.799-204_799-200del
NM_001142604.2:c.490-204_490-200del	NP_001136076.1:n.490-204_490-200del
NM_001363695.2:c.727-204_727-200del	NP_001350624.1:n.727-204_727-200del