Canonical Allele Identifier: CA379473892

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6637302T>G (hg19) ; chr11:g.6616071T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616071T>G , CM000673.2:g.6616071T>G	GRCh38
NC_000011.9:g.6637302T>G , CM000673.1:g.6637302T>G	GRCh37
NC_000011.8:g.6593878T>G	NCBI36
NG_008653.1:g.8391A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.965A>C	ENSP00000507321.1:p.Asp322Ala
ENST00000299427.12:c.1079A>C MANE Select	ENSP00000299427.6:p.Asp360Ala
ENST00000436873.7:c.316A>C
ENST00000524924.2:n.199A>C
ENST00000533371.6:c.350A>C	ENSP00000437066.1:p.Asp117Ala
ENST00000642892.1:c.350A>C	ENSP00000494165.1:p.Asp117Ala
ENST00000643342.1:c.169A>C
ENST00000643439.1:c.*819A>C	ENSP00000495849.1:n.*819A>C
ENST00000643479.1:n.1265A>C
ENST00000643516.1:c.588A>C
ENST00000644218.1:c.890A>C	ENSP00000493574.1:p.Asp297Ala
ENST00000644683.1:c.*532A>C	ENSP00000494085.1:n.*532A>C
ENST00000644810.1:c.800A>C	ENSP00000495895.1:p.Asp267Ala
ENST00000644831.1:n.1255A>C
ENST00000644933.1:c.350A>C	ENSP00000496133.1:p.Asp117Ala
ENST00000645285.1:c.161A>C	ENSP00000495058.1:p.Asp54Ala
ENST00000645331.1:n.1842A>C
ENST00000645620.1:c.350A>C	ENSP00000493657.1:p.Asp117Ala
ENST00000646691.1:n.412A>C
ENST00000646777.1:n.1412A>C
ENST00000647016.1:n.1559A>C
ENST00000647152.1:c.350A>C	ENSP00000495893.1:p.Asp117Ala
ENST00000647209.1:c.*948A>C	ENSP00000495558.1:n.*948A>C
ENST00000647346.1:n.2099A>C
ENST00000299427.10:c.1079A>C	ENSP00000299427.6:p.Asp360Ala
ENST00000524924.1:n.34A>C
ENST00000533371.5:c.350A>C	ENSP00000437066.1:p.Asp117Ala
ENST00000611494.4:c.1079A>C	ENSP00000484546.1:p.Asp360Ala
NM_000391.3:c.1079A>C	NP_000382.3:p.Asp360Ala
NM_000391.4:c.1079A>C MANE Select	NP_000382.3:p.Asp360Ala