Canonical Allele Identifier: CA379476417

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6638934T>G (hg19) ; chr11:g.6617703T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617703T>G , CM000673.2:g.6617703T>G	GRCh38
NC_000011.9:g.6638934T>G , CM000673.1:g.6638934T>G	GRCh37
NC_000011.8:g.6595510T>G	NCBI36
NG_008653.1:g.6759A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.189A>C	ENSP00000507321.1:p.Lys63Asn
ENST00000299427.12:c.303A>C MANE Select	ENSP00000299427.6:p.Lys101Asn
ENST00000428886.7:n.391A>C
ENST00000436873.7:c.107A>C
ENST00000524788.2:n.1315A>C
ENST00000524903.2:n.1431A>C
ENST00000528571.6:c.*43A>C	ENSP00000434647.1:n.*43A>C
ENST00000530040.2:n.332A>C
ENST00000533371.6:c.-427A>C	ENSP00000437066.1:n.-427A>C
ENST00000534644.6:n.304A>C
ENST00000642892.1:c.-374A>C	ENSP00000494165.1:n.-374A>C
ENST00000643439.1:c.*43A>C	ENSP00000495849.1:n.*43A>C
ENST00000643479.1:n.332A>C
ENST00000643516.1:c.190A>C
ENST00000644151.1:n.1595A>C
ENST00000644218.1:c.303A>C	ENSP00000493574.1:p.Lys101Asn
ENST00000644683.1:c.303A>C	ENSP00000494085.1:p.Lys101Asn
ENST00000644810.1:c.230-550A>C	ENSP00000495895.1:n.230-550A>C
ENST00000644831.1:n.332A>C
ENST00000644933.1:c.-427A>C	ENSP00000496133.1:n.-427A>C
ENST00000645020.1:n.1331A>C
ENST00000645285.1:c.-427A>C	ENSP00000495058.1:n.-427A>C
ENST00000645331.1:n.325A>C
ENST00000645620.1:c.-369A>C	ENSP00000493657.1:n.-369A>C
ENST00000646777.1:n.332A>C
ENST00000647016.1:n.636A>C
ENST00000647152.1:c.-427A>C	ENSP00000495893.1:n.-427A>C
ENST00000647209.1:c.*172A>C	ENSP00000495558.1:n.*172A>C
ENST00000647346.1:n.1323A>C
ENST00000299427.10:c.303A>C	ENSP00000299427.6:p.Lys101Asn
ENST00000428886.6:n.325A>C
ENST00000436873.6:c.303A>C	ENSP00000398136.2:p.Lys101Asn
ENST00000528571.5:c.*43A>C	ENSP00000434647.1:n.*43A>C
ENST00000530040.1:n.415A>C
ENST00000533371.5:c.-427A>C	ENSP00000437066.1:n.-427A>C
ENST00000534644.5:n.288A>C
ENST00000611494.4:c.303A>C	ENSP00000484546.1:p.Lys101Asn
NM_000391.3:c.303A>C	NP_000382.3:p.Lys101Asn
NM_000391.4:c.303A>C MANE Select	NP_000382.3:p.Lys101Asn