Canonical Allele Identifier: CA5858668

Gene: TPP1

Linked Data

• ClinVar Variation Id: 701092
• ClinVar RCV Id: RCV000869509
• dbSNP Id: rs773086052
• ExAC: 11:6636411 G / A
• gnomAD v2: 11-6636411-G-A
• gnomAD v3: 11-6615180-G-A
• gnomAD v4: 11-6615180-G-A
• MyVariant Identifiers: chr11:g.6636411G>A (hg19) ; chr11:g.6615180G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615180G>A , CM000673.2:g.6615180G>A	GRCh38
NC_000011.9:g.6636411G>A , CM000673.1:g.6636411G>A	GRCh37
NC_000011.8:g.6592987G>A	NCBI36
NG_008653.1:g.9282C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682424.1:c.1302C>T	ENSP00000507321.1:p.Ser434=
ENST00000299427.12:c.1416C>T MANE Select	ENSP00000299427.6:p.Ser472=
ENST00000524611.2:n.276C>T
ENST00000524924.2:n.536C>T
ENST00000533371.6:c.687C>T	ENSP00000437066.1:p.Ser229=
ENST00000642892.1:c.687C>T	ENSP00000494165.1:p.Ser229=
ENST00000643342.1:c.489C>T
ENST00000643439.1:c.*1156C>T	ENSP00000495849.1:n.*1156C>T
ENST00000643479.1:n.1602C>T
ENST00000643516.1:c.925C>T
ENST00000644218.1:c.1227C>T	ENSP00000493574.1:p.Ser409=
ENST00000644683.1:c.*869C>T	ENSP00000494085.1:n.*869C>T
ENST00000644810.1:c.1137C>T	ENSP00000495895.1:p.Ser379=
ENST00000644831.1:n.1592C>T
ENST00000644933.1:c.*282C>T	ENSP00000496133.1:n.*282C>T
ENST00000645285.1:c.*282C>T	ENSP00000495058.1:n.*282C>T
ENST00000645331.1:n.2621C>T
ENST00000645620.1:c.687C>T	ENSP00000493657.1:p.Ser229=
ENST00000646691.1:n.1303C>T
ENST00000646777.1:n.1749C>T
ENST00000647016.1:n.1896C>T
ENST00000647152.1:c.687C>T	ENSP00000495893.1:p.Ser229=
ENST00000647209.1:c.*1285C>T	ENSP00000495558.1:n.*1285C>T
ENST00000647346.1:n.2436C>T
ENST00000299427.10:c.1416C>T	ENSP00000299427.6:p.Ser472=
ENST00000524611.1:n.294C>T
ENST00000533371.5:c.687C>T	ENSP00000437066.1:p.Ser229=
ENST00000611494.4:c.1416C>T	ENSP00000484546.1:p.Ser472=
NM_000391.3:c.1416C>T	NP_000382.3:p.Ser472=
NM_000391.4:c.1416C>T MANE Select	NP_000382.3:p.Ser472=