Canonical Allele Identifier: CA379471924

Gene: TPP1

Linked Data

• ClinVar Variation Id: 862135
• ClinVar RCV Id: RCV001862472
• dbSNP Id: rs1207993020
• gnomAD v2: 11-6635782-G-A
• gnomAD v3: 11-6614551-G-A
• gnomAD v4: 11-6614551-G-A
• MyVariant Identifiers: chr11:g.6635782G>A (hg19) ; chr11:g.6614551G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6614551G>A , CM000673.2:g.6614551G>A	GRCh38
NC_000011.9:g.6635782G>A , CM000673.1:g.6635782G>A	GRCh37
NC_000011.8:g.6592358G>A	NCBI36
NG_008653.1:g.9911C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1573C>T	ENSP00000507321.1:p.Pro525Ser
ENST00000299427.12:c.1687C>T MANE Select	ENSP00000299427.6:p.Pro563Ser
ENST00000524611.2:n.726C>T
ENST00000533371.6:c.958C>T	ENSP00000437066.1:p.Pro320Ser
ENST00000642892.1:c.958C>T	ENSP00000494165.1:p.Pro320Ser
ENST00000643342.1:c.760C>T
ENST00000643439.1:c.*1427C>T	ENSP00000495849.1:n.*1427C>T
ENST00000643479.1:n.1873C>T
ENST00000643516.1:c.1196C>T
ENST00000644218.1:c.1498C>T	ENSP00000493574.1:p.Pro500Ser
ENST00000644683.1:c.*1140C>T	ENSP00000494085.1:n.*1140C>T
ENST00000644810.1:c.1408C>T	ENSP00000495895.1:p.Pro470Ser
ENST00000644831.1:n.1863C>T
ENST00000644933.1:c.*553C>T	ENSP00000496133.1:n.*553C>T
ENST00000645285.1:c.*553C>T	ENSP00000495058.1:n.*553C>T
ENST00000645331.1:n.2892C>T
ENST00000645620.1:c.958C>T	ENSP00000493657.1:p.Pro320Ser
ENST00000646691.1:n.1574C>T
ENST00000646777.1:n.2020C>T
ENST00000647016.1:n.2167C>T
ENST00000647152.1:c.958C>T	ENSP00000495893.1:p.Pro320Ser
ENST00000647209.1:c.*1556C>T	ENSP00000495558.1:n.*1556C>T
ENST00000647346.1:n.2707C>T
ENST00000299427.10:c.1687C>T	ENSP00000299427.6:p.Pro563Ser
ENST00000533371.5:c.958C>T	ENSP00000437066.1:p.Pro320Ser
ENST00000611494.4:c.*15C>T	ENSP00000484546.1:n.*15C>T
NM_000391.3:c.1687C>T	NP_000382.3:p.Pro563Ser
NM_000391.4:c.1687C>T MANE Select	NP_000382.3:p.Pro563Ser