Canonical Allele Identifier: CA379474816

Gene: TPP1

Linked Data

• ClinVar Variation Id: 806609
• ClinVar RCV Id: RCV000994560
• dbSNP Id: rs1589948382
• MyVariant Identifiers: chr11:g.6637898T>A (hg19) ; chr11:g.6616667T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616667T>A , CM000673.2:g.6616667T>A	GRCh38
NC_000011.9:g.6637898T>A , CM000673.1:g.6637898T>A	GRCh37
NC_000011.8:g.6594474T>A	NCBI36
NG_008653.1:g.7795A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.766A>T	ENSP00000507321.1:p.Ser256Cys
ENST00000299427.12:c.880A>T MANE Select	ENSP00000299427.6:p.Ser294Cys
ENST00000436873.7:c.313-593A>T
ENST00000524788.2:n.2039A>T
ENST00000524903.2:n.2155A>T
ENST00000528807.2:n.536A>T
ENST00000530040.2:n.480-164A>T
ENST00000533371.6:c.151A>T	ENSP00000437066.1:p.Ser51Cys
ENST00000642892.1:c.151A>T	ENSP00000494165.1:p.Ser51Cys
ENST00000643439.1:c.*620A>T	ENSP00000495849.1:n.*620A>T
ENST00000643479.1:n.909A>T
ENST00000643516.1:c.396-164A>T
ENST00000644151.1:n.2319A>T
ENST00000644218.1:c.880A>T	ENSP00000493574.1:p.Ser294Cys
ENST00000644683.1:c.*333A>T	ENSP00000494085.1:n.*333A>T
ENST00000644810.1:c.601A>T	ENSP00000495895.1:p.Ser201Cys
ENST00000644831.1:n.1056A>T
ENST00000644933.1:c.151A>T	ENSP00000496133.1:p.Ser51Cys
ENST00000645020.1:n.2170A>T
ENST00000645285.1:c.151A>T	ENSP00000495058.1:p.Ser51Cys
ENST00000645331.1:n.1246A>T
ENST00000645620.1:c.151A>T	ENSP00000493657.1:p.Ser51Cys
ENST00000646777.1:n.1056A>T
ENST00000647016.1:n.1360A>T
ENST00000647152.1:c.151A>T	ENSP00000495893.1:p.Ser51Cys
ENST00000647209.1:c.*749A>T	ENSP00000495558.1:n.*749A>T
ENST00000647346.1:n.1900A>T
ENST00000299427.10:c.880A>T	ENSP00000299427.6:p.Ser294Cys
ENST00000436873.6:c.451-164A>T	ENSP00000398136.2:n.451-164A>T
ENST00000528807.1:n.430A>T
ENST00000533371.5:c.151A>T	ENSP00000437066.1:p.Ser51Cys
ENST00000611494.4:c.880A>T	ENSP00000484546.1:p.Ser294Cys
NM_000391.3:c.880A>T	NP_000382.3:p.Ser294Cys
NM_000391.4:c.880A>T MANE Select	NP_000382.3:p.Ser294Cys