Canonical Allele Identifier: CA472922305

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6636495G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615264G>C , CM000673.2:g.6615264G>C	GRCh38
NC_000011.9:g.6636495G>C , CM000673.1:g.6636495G>C	GRCh37
NC_000011.8:g.6593071G>C	NCBI36
NG_008653.1:g.9198C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682424.1:c.1218C>G	ENSP00000507321.1:p.Ala406=
ENST00000299427.12:c.1332C>G MANE Select	ENSP00000299427.6:p.Ala444=
ENST00000524611.2:n.192C>G
ENST00000524924.2:n.452C>G
ENST00000533371.6:c.603C>G	ENSP00000437066.1:p.Ala201=
ENST00000642892.1:c.603C>G	ENSP00000494165.1:p.Ala201=
ENST00000643342.1:c.405C>G
ENST00000643439.1:c.*1072C>G	ENSP00000495849.1:n.*1072C>G
ENST00000643479.1:n.1518C>G
ENST00000643516.1:c.841C>G
ENST00000644218.1:c.1143C>G	ENSP00000493574.1:p.Ala381=
ENST00000644683.1:c.*785C>G	ENSP00000494085.1:n.*785C>G
ENST00000644810.1:c.1053C>G	ENSP00000495895.1:p.Ala351=
ENST00000644831.1:n.1508C>G
ENST00000644933.1:c.*198C>G	ENSP00000496133.1:n.*198C>G
ENST00000645285.1:c.*198C>G	ENSP00000495058.1:n.*198C>G
ENST00000645331.1:n.2537C>G
ENST00000645620.1:c.603C>G	ENSP00000493657.1:p.Ala201=
ENST00000646691.1:n.1219C>G
ENST00000646777.1:n.1665C>G
ENST00000647016.1:n.1812C>G
ENST00000647152.1:c.603C>G	ENSP00000495893.1:p.Ala201=
ENST00000647209.1:c.*1201C>G	ENSP00000495558.1:n.*1201C>G
ENST00000647346.1:n.2352C>G
ENST00000299427.10:c.1332C>G	ENSP00000299427.6:p.Ala444=
ENST00000524611.1:n.210C>G
ENST00000524924.1:n.287C>G
ENST00000532191.1:n.385C>G
ENST00000533371.5:c.603C>G	ENSP00000437066.1:p.Ala201=
ENST00000611494.4:c.1332C>G	ENSP00000484546.1:p.Ala444=
NM_000391.3:c.1332C>G	NP_000382.3:p.Ala444=
NM_000391.4:c.1332C>G MANE Select	NP_000382.3:p.Ala444=