Canonical Allele Identifier: CA915941211

Gene: PPT1

Linked Data

• ClinVar Variation Id: 649994
• ClinVar RCV Id: RCV000805058
• dbSNP Id: rs1570470281

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40092071_40092072del , CM000663.2:g.40092071_40092072del	GRCh38
NC_000001.10:g.40557743_40557744del , CM000663.1:g.40557743_40557744del	GRCh37
NC_000001.9:g.40330330_40330331del	NCBI36
NG_009192.1:g.10399_10400del , LRG_690:g.10399_10400del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372779.9:c.*171_*172del	ENSP00000361865.5:n.*171_*172del
ENST00000433473.8:c.332_333del	ENSP00000394863.4:p.Met111ArgfsTer?
ENST00000439754.6:c.335_336del	ENSP00000403207.2:p.Met112ArgfsTer?
ENST00000449045.7:c.125-2560_125-2559del	ENSP00000392293.2:n.125-2560_125-2559del
ENST00000526547.2:c.615_616del
ENST00000527311.7:c.234+326_234+327del	ENSP00000436695.3:n.234+326_234+327del
ENST00000530704.6:c.335_336del	ENSP00000431655.1:p.Met112ArgfsTer?
ENST00000641083.1:c.313_314del
ENST00000641236.1:n.572_573del
ENST00000641319.1:c.335_336del	ENSP00000493128.1:p.Met112ArgfsTer?
ENST00000641471.1:c.422_423del	ENSP00000493146.1:p.Met141ArgfsTer?
ENST00000641548.1:c.*187_*188del	ENSP00000492984.1:n.*187_*188del
ENST00000641691.1:c.*187_*188del	ENSP00000492910.1:n.*187_*188del
ENST00000641924.1:c.124+5043_124+5044del	ENSP00000493063.1:n.124+5043_124+5044del
ENST00000642050.2:c.335_336del MANE Select	ENSP00000493153.1:p.Met112ArgfsTer?
ENST00000372779.8:c.422_423del	ENSP00000361865.4:p.Met141ArgfsTer?
ENST00000433473.7:c.335_336del	ENSP00000394863.3:p.Met112ArgfsTer?
ENST00000439754.5:c.20_21del	ENSP00000403207.1:p.Met7ArgfsTer?
ENST00000449045.6:c.125-2560_125-2559del	ENSP00000392293.2:n.125-2560_125-2559del
ENST00000526547.1:c.185_186del	ENSP00000436481.1:p.Met62ArgfsTer?
ENST00000527311.6:c.125-15_125-14del	ENSP00000436695.2:n.125-15_125-14del
ENST00000529905.5:c.335_336del	ENSP00000432053.1:p.Met112ArgfsTer?
ENST00000530704.5:c.335_336del	ENSP00000431655.1:p.Met112ArgfsTer?
NM_000310.3:c.335_336del , LRG_690t1:c.335_336del	NP_000301.1:p.Met112ArgfsTer?
NM_001142604.1:c.125-2560_125-2559del	NP_001136076.1:n.125-2560_125-2559del
XM_005271008.1:c.335_336del	XP_005271065.1:p.Met112ArgfsTer?
NM_001363695.1:c.335_336del	NP_001350624.1:p.Met112ArgfsTer?
NM_000310.4:c.335_336del MANE Select	NP_000301.1:p.Met112ArgfsTer?
NM_001142604.2:c.125-2560_125-2559del	NP_001136076.1:n.125-2560_125-2559del
NM_001363695.2:c.335_336del	NP_001350624.1:p.Met112ArgfsTer?