Canonical Allele Identifier: CA5858887

Gene: TPP1

Linked Data

• dbSNP Id: rs763398665
• ExAC: 11:6638241 A / G
• gnomAD v2: 11-6638241-A-G
• gnomAD v4: 11-6617010-A-G
• MyVariant Identifiers: chr11:g.6638241A>G (hg19) ; chr11:g.6617010A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617010A>G , CM000673.2:g.6617010A>G	GRCh38
NC_000011.9:g.6638241A>G , CM000673.1:g.6638241A>G	GRCh37
NC_000011.8:g.6594817A>G	NCBI36
NG_008653.1:g.7452T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.538T>C	ENSP00000507321.1:p.Ser180Pro
ENST00000299427.12:c.652T>C MANE Select	ENSP00000299427.6:p.Ser218Pro
ENST00000436873.7:c.312+291T>C
ENST00000524788.2:n.1811T>C
ENST00000524903.2:n.1927T>C
ENST00000528807.2:n.308T>C
ENST00000530040.2:n.479+349T>C
ENST00000533371.6:c.-78T>C	ENSP00000437066.1:n.-78T>C
ENST00000534644.6:n.600T>C
ENST00000642892.1:c.-78T>C	ENSP00000494165.1:n.-78T>C
ENST00000643439.1:c.*392T>C	ENSP00000495849.1:n.*392T>C
ENST00000643479.1:n.681T>C
ENST00000643516.1:c.395+291T>C
ENST00000644151.1:n.2091T>C
ENST00000644218.1:c.652T>C	ENSP00000493574.1:p.Ser218Pro
ENST00000644683.1:c.*105T>C	ENSP00000494085.1:n.*105T>C
ENST00000644810.1:c.373T>C	ENSP00000495895.1:p.Ser125Pro
ENST00000644831.1:n.828T>C
ENST00000644933.1:c.-78T>C	ENSP00000496133.1:n.-78T>C
ENST00000645020.1:n.1827T>C
ENST00000645285.1:c.-78T>C	ENSP00000495058.1:n.-78T>C
ENST00000645331.1:n.1018T>C
ENST00000645620.1:c.-78T>C	ENSP00000493657.1:n.-78T>C
ENST00000646777.1:n.828T>C
ENST00000647016.1:n.1132T>C
ENST00000647152.1:c.-78T>C	ENSP00000495893.1:n.-78T>C
ENST00000647209.1:c.*521T>C	ENSP00000495558.1:n.*521T>C
ENST00000647346.1:n.1672T>C
ENST00000299427.10:c.652T>C	ENSP00000299427.6:p.Ser218Pro
ENST00000428886.6:n.821T>C
ENST00000436873.6:c.450+349T>C	ENSP00000398136.2:n.450+349T>C
ENST00000524788.1:n.352T>C
ENST00000528571.5:c.*392T>C	ENSP00000434647.1:n.*392T>C
ENST00000528807.1:n.202T>C
ENST00000533371.5:c.-78T>C	ENSP00000437066.1:n.-78T>C
ENST00000611494.4:c.652T>C	ENSP00000484546.1:p.Ser218Pro
NM_000391.3:c.652T>C	NP_000382.3:p.Ser218Pro
NM_000391.4:c.652T>C MANE Select	NP_000382.3:p.Ser218Pro