Canonical Allele Identifier: CA379475716

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6638556C>G (hg19) ; chr11:g.6617325C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617325C>G , CM000673.2:g.6617325C>G	GRCh38
NC_000011.9:g.6638556C>G , CM000673.1:g.6638556C>G	GRCh37
NC_000011.8:g.6595132C>G	NCBI36
NG_008653.1:g.7137G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682424.1:c.370G>C	ENSP00000507321.1:p.Ala124Pro
ENST00000299427.12:c.484G>C MANE Select	ENSP00000299427.6:p.Ala162Pro
ENST00000428886.7:n.572G>C
ENST00000436873.7:c.288G>C
ENST00000524788.2:n.1496G>C
ENST00000524903.2:n.1612G>C
ENST00000528571.6:c.*224G>C	ENSP00000434647.1:n.*224G>C
ENST00000528807.2:n.140G>C
ENST00000530040.2:n.479+34G>C
ENST00000533371.6:c.-246G>C	ENSP00000437066.1:n.-246G>C
ENST00000534644.6:n.456+29G>C
ENST00000642892.1:c.-222+29G>C	ENSP00000494165.1:n.-222+29G>C
ENST00000643439.1:c.*224G>C	ENSP00000495849.1:n.*224G>C
ENST00000643479.1:n.513G>C
ENST00000643516.1:c.371G>C
ENST00000644151.1:n.1776G>C
ENST00000644218.1:c.484G>C	ENSP00000493574.1:p.Ala162Pro
ENST00000644683.1:c.450+34G>C	ENSP00000494085.1:n.450+34G>C
ENST00000644810.1:c.230-172G>C	ENSP00000495895.1:n.230-172G>C
ENST00000644831.1:n.513G>C
ENST00000644933.1:c.-246G>C	ENSP00000496133.1:n.-246G>C
ENST00000645020.1:n.1512G>C
ENST00000645285.1:c.-246G>C	ENSP00000495058.1:n.-246G>C
ENST00000645331.1:n.703G>C
ENST00000645620.1:c.-222+34G>C	ENSP00000493657.1:n.-222+34G>C
ENST00000646777.1:n.513G>C
ENST00000647016.1:n.817G>C
ENST00000647152.1:c.-246G>C	ENSP00000495893.1:n.-246G>C
ENST00000647209.1:c.*353G>C	ENSP00000495558.1:n.*353G>C
ENST00000647346.1:n.1504G>C
ENST00000299427.10:c.484G>C	ENSP00000299427.6:p.Ala162Pro
ENST00000428886.6:n.506G>C
ENST00000436873.6:c.450+34G>C	ENSP00000398136.2:n.450+34G>C
ENST00000524788.1:n.37G>C
ENST00000528571.5:c.*224G>C	ENSP00000434647.1:n.*224G>C
ENST00000533371.5:c.-246G>C	ENSP00000437066.1:n.-246G>C
ENST00000534644.5:n.469G>C
ENST00000611494.4:c.484G>C	ENSP00000484546.1:p.Ala162Pro
NM_000391.3:c.484G>C	NP_000382.3:p.Ala162Pro
NM_000391.4:c.484G>C MANE Select	NP_000382.3:p.Ala162Pro