Canonical Allele Identifier: CA379476174

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6638872C>G (hg19) ; chr11:g.6617641C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617641C>G , CM000673.2:g.6617641C>G	GRCh38
NC_000011.9:g.6638872C>G , CM000673.1:g.6638872C>G	GRCh37
NC_000011.8:g.6595448C>G	NCBI36
NG_008653.1:g.6821G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682424.1:c.251G>C	ENSP00000507321.1:p.Cys84Ser
ENST00000299427.12:c.365G>C MANE Select	ENSP00000299427.6:p.Cys122Ser
ENST00000428886.7:n.453G>C
ENST00000436873.7:c.169G>C
ENST00000524788.2:n.1377G>C
ENST00000524903.2:n.1493G>C
ENST00000528571.6:c.*105G>C	ENSP00000434647.1:n.*105G>C
ENST00000530040.2:n.394G>C
ENST00000533371.6:c.-365G>C	ENSP00000437066.1:n.-365G>C
ENST00000534644.6:n.366G>C
ENST00000642892.1:c.-312G>C	ENSP00000494165.1:n.-312G>C
ENST00000643439.1:c.*105G>C	ENSP00000495849.1:n.*105G>C
ENST00000643479.1:n.394G>C
ENST00000643516.1:c.252G>C
ENST00000644151.1:n.1657G>C
ENST00000644218.1:c.365G>C	ENSP00000493574.1:p.Cys122Ser
ENST00000644683.1:c.365G>C	ENSP00000494085.1:p.Cys122Ser
ENST00000644810.1:c.230-488G>C	ENSP00000495895.1:n.230-488G>C
ENST00000644831.1:n.394G>C
ENST00000644933.1:c.-365G>C	ENSP00000496133.1:n.-365G>C
ENST00000645020.1:n.1393G>C
ENST00000645285.1:c.-365G>C	ENSP00000495058.1:n.-365G>C
ENST00000645331.1:n.387G>C
ENST00000645620.1:c.-307G>C	ENSP00000493657.1:n.-307G>C
ENST00000646777.1:n.394G>C
ENST00000647016.1:n.698G>C
ENST00000647152.1:c.-365G>C	ENSP00000495893.1:n.-365G>C
ENST00000647209.1:c.*234G>C	ENSP00000495558.1:n.*234G>C
ENST00000647346.1:n.1385G>C
ENST00000299427.10:c.365G>C	ENSP00000299427.6:p.Cys122Ser
ENST00000428886.6:n.387G>C
ENST00000436873.6:c.365G>C	ENSP00000398136.2:p.Cys122Ser
ENST00000528571.5:c.*105G>C	ENSP00000434647.1:n.*105G>C
ENST00000530040.1:n.477G>C
ENST00000533371.5:c.-365G>C	ENSP00000437066.1:n.-365G>C
ENST00000534644.5:n.350G>C
ENST00000611494.4:c.365G>C	ENSP00000484546.1:p.Cys122Ser
NM_000391.3:c.365G>C	NP_000382.3:p.Cys122Ser
NM_000391.4:c.365G>C MANE Select	NP_000382.3:p.Cys122Ser