Canonical Allele Identifier: CA5858884

Gene: TPP1

Linked Data

• ClinVar Variation Id: 287701
• ClinVar RCV Id: RCV000270685 ; RCV001828243
• dbSNP Id: rs372787642
• ExAC: 11:6638228 T / C
• gnomAD v2: 11-6638228-T-C
• gnomAD v3: 11-6616997-T-C
• gnomAD v4: 11-6616997-T-C
• MyVariant Identifiers: chr11:g.6638228T>C (hg19) ; chr11:g.6616997T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616997T>C , CM000673.2:g.6616997T>C	GRCh38
NC_000011.9:g.6638228T>C , CM000673.1:g.6638228T>C	GRCh37
NC_000011.8:g.6594804T>C	NCBI36
NG_008653.1:g.7465A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.551A>G	ENSP00000507321.1:p.Asn184Ser
ENST00000299427.12:c.665A>G MANE Select	ENSP00000299427.6:p.Asn222Ser
ENST00000436873.7:c.312+304A>G
ENST00000524788.2:n.1824A>G
ENST00000524903.2:n.1940A>G
ENST00000528807.2:n.321A>G
ENST00000530040.2:n.479+362A>G
ENST00000533371.6:c.-65A>G	ENSP00000437066.1:n.-65A>G
ENST00000534644.6:n.613A>G
ENST00000642892.1:c.-65A>G	ENSP00000494165.1:n.-65A>G
ENST00000643439.1:c.*405A>G	ENSP00000495849.1:n.*405A>G
ENST00000643479.1:n.694A>G
ENST00000643516.1:c.395+304A>G
ENST00000644151.1:n.2104A>G
ENST00000644218.1:c.665A>G	ENSP00000493574.1:p.Asn222Ser
ENST00000644683.1:c.*118A>G	ENSP00000494085.1:n.*118A>G
ENST00000644810.1:c.386A>G	ENSP00000495895.1:p.Asn129Ser
ENST00000644831.1:n.841A>G
ENST00000644933.1:c.-65A>G	ENSP00000496133.1:n.-65A>G
ENST00000645020.1:n.1840A>G
ENST00000645285.1:c.-65A>G	ENSP00000495058.1:n.-65A>G
ENST00000645331.1:n.1031A>G
ENST00000645620.1:c.-65A>G	ENSP00000493657.1:n.-65A>G
ENST00000646777.1:n.841A>G
ENST00000647016.1:n.1145A>G
ENST00000647152.1:c.-65A>G	ENSP00000495893.1:n.-65A>G
ENST00000647209.1:c.*534A>G	ENSP00000495558.1:n.*534A>G
ENST00000647346.1:n.1685A>G
ENST00000299427.10:c.665A>G	ENSP00000299427.6:p.Asn222Ser
ENST00000428886.6:n.834A>G
ENST00000436873.6:c.450+362A>G	ENSP00000398136.2:n.450+362A>G
ENST00000524788.1:n.365A>G
ENST00000528571.5:c.*405A>G	ENSP00000434647.1:n.*405A>G
ENST00000528807.1:n.215A>G
ENST00000533371.5:c.-65A>G	ENSP00000437066.1:n.-65A>G
ENST00000611494.4:c.665A>G	ENSP00000484546.1:p.Asn222Ser
NM_000391.3:c.665A>G	NP_000382.3:p.Asn222Ser
NM_000391.4:c.665A>G MANE Select	NP_000382.3:p.Asn222Ser