Canonical Allele Identifier: CA522417353

Gene: PPT1

Linked Data

• dbSNP Id: rs1182567214
• gnomAD v2: 1-40540055-TTCC-T
• gnomAD v3: 1-40074383-TTCC-T
• gnomAD v4: 1-40074383-TTCC-T
• MyVariant Identifiers: chr1:g.40540056_40540058del (hg19) ; chr1:g.40074384_40074386del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074385_40074387del , CM000663.2:g.40074385_40074387del	GRCh38
NC_000001.10:g.40540057_40540059del , CM000663.1:g.40540057_40540059del	GRCh37
NC_000001.9:g.40312644_40312646del	NCBI36
NG_009192.1:g.28085_28087del , LRG_690:g.28085_28087del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.796-203_796-201del	ENSP00000394863.4:n.796-203_796-201del
ENST00000439754.6:c.727-203_727-201del	ENSP00000403207.2:n.727-203_727-201del
ENST00000449045.7:c.490-203_490-201del	ENSP00000392293.2:n.490-203_490-201del
ENST00000527311.7:c.568-203_568-201del	ENSP00000436695.3:n.568-203_568-201del
ENST00000530076.6:c.142-203_142-201del	ENSP00000434007.1:n.142-203_142-201del
ENST00000530704.6:c.*422-203_*422-201del	ENSP00000431655.1:n.*422-203_*422-201del
ENST00000641083.1:c.889-203_889-201del
ENST00000641236.1:n.1036-203_1036-201del
ENST00000641319.1:c.*9-203_*9-201del	ENSP00000493128.1:n.*9-203_*9-201del
ENST00000641381.1:c.221-203_221-201del
ENST00000641471.1:c.886-203_886-201del	ENSP00000493146.1:n.886-203_886-201del
ENST00000641691.1:c.*651-203_*651-201del	ENSP00000492910.1:n.*651-203_*651-201del
ENST00000641924.1:c.*228-203_*228-201del	ENSP00000493063.1:n.*228-203_*228-201del
ENST00000642050.2:c.799-203_799-201del MANE Select	ENSP00000493153.1:n.799-203_799-201del
ENST00000372775.2:n.196-203_196-201del
ENST00000433473.7:c.799-203_799-201del	ENSP00000394863.3:n.799-203_799-201del
ENST00000439754.5:c.412-203_412-201del	ENSP00000403207.1:n.412-203_412-201del
ENST00000449045.6:c.490-203_490-201del	ENSP00000392293.2:n.490-203_490-201del
ENST00000527311.6:c.574-203_574-201del	ENSP00000436695.2:n.574-203_574-201del
ENST00000529905.5:c.799-203_799-201del	ENSP00000432053.1:n.799-203_799-201del
ENST00000530076.5:c.142-203_142-201del	ENSP00000434007.1:n.142-203_142-201del
ENST00000530704.5:c.*422-203_*422-201del	ENSP00000431655.1:n.*422-203_*422-201del
NM_000310.3:c.799-203_799-201del , LRG_690t1:c.799-203_799-201del	NP_000301.1:n.799-203_799-201del
NM_001142604.1:c.490-203_490-201del	NP_001136076.1:n.490-203_490-201del
XM_005271008.1:c.727-203_727-201del	XP_005271065.1:n.727-203_727-201del
NM_001363695.1:c.727-203_727-201del	NP_001350624.1:n.727-203_727-201del
NM_000310.4:c.799-203_799-201del MANE Select	NP_000301.1:n.799-203_799-201del
NM_001142604.2:c.490-203_490-201del	NP_001136076.1:n.490-203_490-201del
NM_001363695.2:c.727-203_727-201del	NP_001350624.1:n.727-203_727-201del