Canonical Allele Identifier: CA1139656054

Gene: PPT1

Linked Data

• ClinVar Variation Id: 987199
• ClinVar RCV Id: RCV001268473
• dbSNP Id: rs1649593824

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40092063del , CM000663.2:g.40092063del	GRCh38
NC_000001.10:g.40557735del , CM000663.1:g.40557735del	GRCh37
NC_000001.9:g.40330322del	NCBI36
NG_009192.1:g.10410del , LRG_690:g.10410del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372779.9:c.*182del	ENSP00000361865.5:n.*182del
ENST00000433473.8:c.343del	ENSP00000394863.4:p.Gln115ArgfsTer6
ENST00000439754.6:c.346del	ENSP00000403207.2:p.Gln116ArgfsTer6
ENST00000449045.7:c.125-2549del	ENSP00000392293.2:n.125-2549del
ENST00000526547.2:c.626del
ENST00000527311.7:c.234+337del	ENSP00000436695.3:n.234+337del
ENST00000530704.6:c.346del	ENSP00000431655.1:p.Gln116ArgfsTer6
ENST00000641083.1:c.324del
ENST00000641236.1:n.583del
ENST00000641319.1:c.346del	ENSP00000493128.1:p.Gln116ArgfsTer6
ENST00000641471.1:c.433del	ENSP00000493146.1:p.Gln145ArgfsTer6
ENST00000641548.1:c.*198del	ENSP00000492984.1:n.*198del
ENST00000641691.1:c.*198del	ENSP00000492910.1:n.*198del
ENST00000641924.1:c.124+5054del	ENSP00000493063.1:n.124+5054del
ENST00000642050.2:c.346del MANE Select	ENSP00000493153.1:p.Gln116ArgfsTer6
ENST00000372779.8:c.433del	ENSP00000361865.4:p.Gln145ArgfsTer6
ENST00000433473.7:c.346del	ENSP00000394863.3:p.Gln116ArgfsTer6
ENST00000439754.5:c.31del	ENSP00000403207.1:p.Gln11ArgfsTer6
ENST00000449045.6:c.125-2549del	ENSP00000392293.2:n.125-2549del
ENST00000526547.1:c.196del	ENSP00000436481.1:p.Gln66ArgfsTer6
ENST00000527311.6:c.125-4del	ENSP00000436695.2:n.125-4del
ENST00000529905.5:c.346del	ENSP00000432053.1:p.Gln116ArgfsTer6
ENST00000530704.5:c.346del	ENSP00000431655.1:p.Gln116ArgfsTer6
NM_000310.3:c.346del , LRG_690t1:c.346del	NP_000301.1:p.Gln116ArgfsTer6
NM_001142604.1:c.125-2549del	NP_001136076.1:n.125-2549del
XM_005271008.1:c.346del	XP_005271065.1:p.Gln116ArgfsTer6
NM_001363695.1:c.346del	NP_001350624.1:p.Gln116ArgfsTer6
NM_000310.4:c.346del MANE Select	NP_000301.1:p.Gln116ArgfsTer6
NM_001142604.2:c.125-2549del	NP_001136076.1:n.125-2549del
NM_001363695.2:c.346del	NP_001350624.1:p.Gln116ArgfsTer6