Canonical Allele Identifier: CA277862

Gene: TPP1

Linked Data

• ClinVar Variation Id: 218336
• ClinVar RCV Id: RCV000202601
• dbSNP Id: rs864309505
• MyVariant Identifiers: chr11:g.6636451T>G (hg19) ; chr11:g.6615220T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615220T>G , CM000673.2:g.6615220T>G	GRCh38
NC_000011.9:g.6636451T>G , CM000673.1:g.6636451T>G	GRCh37
NC_000011.8:g.6593027T>G	NCBI36
NG_008653.1:g.9242A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1262A>C	ENSP00000507321.1:p.Tyr421Ser
ENST00000299427.12:c.1376A>C MANE Select	ENSP00000299427.6:p.Tyr459Ser
ENST00000524611.2:n.236A>C
ENST00000524924.2:n.496A>C
ENST00000533371.6:c.647A>C	ENSP00000437066.1:p.Tyr216Ser
ENST00000642892.1:c.647A>C	ENSP00000494165.1:p.Tyr216Ser
ENST00000643342.1:c.449A>C
ENST00000643439.1:c.*1116A>C	ENSP00000495849.1:n.*1116A>C
ENST00000643479.1:n.1562A>C
ENST00000643516.1:c.885A>C
ENST00000644218.1:c.1187A>C	ENSP00000493574.1:p.Tyr396Ser
ENST00000644683.1:c.*829A>C	ENSP00000494085.1:n.*829A>C
ENST00000644810.1:c.1097A>C	ENSP00000495895.1:p.Tyr366Ser
ENST00000644831.1:n.1552A>C
ENST00000644933.1:c.*242A>C	ENSP00000496133.1:n.*242A>C
ENST00000645285.1:c.*242A>C	ENSP00000495058.1:n.*242A>C
ENST00000645331.1:n.2581A>C
ENST00000645620.1:c.647A>C	ENSP00000493657.1:p.Tyr216Ser
ENST00000646691.1:n.1263A>C
ENST00000646777.1:n.1709A>C
ENST00000647016.1:n.1856A>C
ENST00000647152.1:c.647A>C	ENSP00000495893.1:p.Tyr216Ser
ENST00000647209.1:c.*1245A>C	ENSP00000495558.1:n.*1245A>C
ENST00000647346.1:n.2396A>C
ENST00000299427.10:c.1376A>C	ENSP00000299427.6:p.Tyr459Ser
ENST00000524611.1:n.254A>C
ENST00000532191.1:n.429A>C
ENST00000533371.5:c.647A>C	ENSP00000437066.1:p.Tyr216Ser
ENST00000611494.4:c.1376A>C	ENSP00000484546.1:p.Tyr459Ser
NM_000391.3:c.1376A>C	NP_000382.3:p.Tyr459Ser
NM_000391.4:c.1376A>C MANE Select	NP_000382.3:p.Tyr459Ser