Canonical Allele Identifier: CA379475483

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6638294A>G (hg19) ; chr11:g.6617063A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617063A>G , CM000673.2:g.6617063A>G	GRCh38
NC_000011.9:g.6638294A>G , CM000673.1:g.6638294A>G	GRCh37
NC_000011.8:g.6594870A>G	NCBI36
NG_008653.1:g.7399T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682424.1:c.485T>C	ENSP00000507321.1:p.Val162Ala
ENST00000299427.12:c.599T>C MANE Select	ENSP00000299427.6:p.Val200Ala
ENST00000428886.7:n.834T>C
ENST00000436873.7:c.312+238T>C
ENST00000524788.2:n.1758T>C
ENST00000524903.2:n.1874T>C
ENST00000528807.2:n.255T>C
ENST00000530040.2:n.479+296T>C
ENST00000533371.6:c.-131T>C	ENSP00000437066.1:n.-131T>C
ENST00000534644.6:n.547T>C
ENST00000642892.1:c.-131T>C	ENSP00000494165.1:n.-131T>C
ENST00000643439.1:c.*339T>C	ENSP00000495849.1:n.*339T>C
ENST00000643479.1:n.628T>C
ENST00000643516.1:c.395+238T>C
ENST00000644151.1:n.2038T>C
ENST00000644218.1:c.599T>C	ENSP00000493574.1:p.Val200Ala
ENST00000644683.1:c.*52T>C	ENSP00000494085.1:n.*52T>C
ENST00000644810.1:c.320T>C	ENSP00000495895.1:p.Val107Ala
ENST00000644831.1:n.775T>C
ENST00000644933.1:c.-131T>C	ENSP00000496133.1:n.-131T>C
ENST00000645020.1:n.1774T>C
ENST00000645285.1:c.-131T>C	ENSP00000495058.1:n.-131T>C
ENST00000645331.1:n.965T>C
ENST00000645620.1:c.-131T>C	ENSP00000493657.1:n.-131T>C
ENST00000646777.1:n.775T>C
ENST00000647016.1:n.1079T>C
ENST00000647152.1:c.-131T>C	ENSP00000495893.1:n.-131T>C
ENST00000647209.1:c.*468T>C	ENSP00000495558.1:n.*468T>C
ENST00000647346.1:n.1619T>C
ENST00000299427.10:c.599T>C	ENSP00000299427.6:p.Val200Ala
ENST00000428886.6:n.768T>C
ENST00000436873.6:c.450+296T>C	ENSP00000398136.2:n.450+296T>C
ENST00000524788.1:n.299T>C
ENST00000528571.5:c.*339T>C	ENSP00000434647.1:n.*339T>C
ENST00000528807.1:n.149T>C
ENST00000533371.5:c.-131T>C	ENSP00000437066.1:n.-131T>C
ENST00000534644.5:n.584T>C
ENST00000611494.4:c.599T>C	ENSP00000484546.1:p.Val200Ala
NM_000391.3:c.599T>C	NP_000382.3:p.Val200Ala
NM_000391.4:c.599T>C MANE Select	NP_000382.3:p.Val200Ala