Canonical Allele Identifier: CA239116

Gene: TPP1

Linked Data

• ClinVar Variation Id: 193583
• ClinVar RCV Id: RCV000322901 ; RCV000724076 ; RCV001280959 ; RCV002316995
• dbSNP Id: rs146798796
• ExAC: 11:6636698 T / A
• gnomAD v2: 11-6636698-T-A
• gnomAD v3: 11-6615467-T-A
• gnomAD v4: 11-6615467-T-A
• MyVariant Identifiers: chr11:g.6636698T>A (hg19) ; chr11:g.6615467T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615467T>A , CM000673.2:g.6615467T>A	GRCh38
NC_000011.9:g.6636698T>A , CM000673.1:g.6636698T>A	GRCh37
NC_000011.8:g.6593274T>A	NCBI36
NG_008653.1:g.8995A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1127A>T	ENSP00000507321.1:p.Asn376Ile
ENST00000299427.12:c.1241A>T MANE Select	ENSP00000299427.6:p.Asn414Ile
ENST00000436873.7:c.478A>T
ENST00000524924.2:n.361A>T
ENST00000533371.6:c.512A>T	ENSP00000437066.1:p.Asn171Ile
ENST00000642892.1:c.512A>T	ENSP00000494165.1:p.Asn171Ile
ENST00000643342.1:c.314A>T
ENST00000643439.1:c.*981A>T	ENSP00000495849.1:n.*981A>T
ENST00000643479.1:n.1427A>T
ENST00000643516.1:c.750A>T
ENST00000644218.1:c.1052A>T	ENSP00000493574.1:p.Asn351Ile
ENST00000644683.1:c.*694A>T	ENSP00000494085.1:n.*694A>T
ENST00000644810.1:c.962A>T	ENSP00000495895.1:p.Asn321Ile
ENST00000644831.1:n.1417A>T
ENST00000644933.1:c.*107A>T	ENSP00000496133.1:n.*107A>T
ENST00000645285.1:c.*107A>T	ENSP00000495058.1:n.*107A>T
ENST00000645331.1:n.2446A>T
ENST00000645620.1:c.512A>T	ENSP00000493657.1:p.Asn171Ile
ENST00000646691.1:n.1016A>T
ENST00000646777.1:n.1574A>T
ENST00000647016.1:n.1721A>T
ENST00000647152.1:c.512A>T	ENSP00000495893.1:p.Asn171Ile
ENST00000647209.1:c.*1110A>T	ENSP00000495558.1:n.*1110A>T
ENST00000647346.1:n.2261A>T
ENST00000299427.10:c.1241A>T	ENSP00000299427.6:p.Asn414Ile
ENST00000524611.1:n.7A>T
ENST00000524924.1:n.196A>T
ENST00000532191.1:n.294A>T
ENST00000533371.5:c.512A>T	ENSP00000437066.1:p.Asn171Ile
ENST00000611494.4:c.1241A>T	ENSP00000484546.1:p.Asn414Ile
NM_000391.3:c.1241A>T	NP_000382.3:p.Asn414Ile
NM_000391.4:c.1241A>T MANE Select	NP_000382.3:p.Asn414Ile