Canonical Allele Identifier: CA379472706

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6636497C>A (hg19) ; chr11:g.6615266C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615266C>A , CM000673.2:g.6615266C>A	GRCh38
NC_000011.9:g.6636497C>A , CM000673.1:g.6636497C>A	GRCh37
NC_000011.8:g.6593073C>A	NCBI36
NG_008653.1:g.9196G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682424.1:c.1216G>T	ENSP00000507321.1:p.Ala406Ser
ENST00000299427.12:c.1330G>T MANE Select	ENSP00000299427.6:p.Ala444Ser
ENST00000524611.2:n.190G>T
ENST00000524924.2:n.450G>T
ENST00000533371.6:c.601G>T	ENSP00000437066.1:p.Ala201Ser
ENST00000642892.1:c.601G>T	ENSP00000494165.1:p.Ala201Ser
ENST00000643342.1:c.403G>T
ENST00000643439.1:c.*1070G>T	ENSP00000495849.1:n.*1070G>T
ENST00000643479.1:n.1516G>T
ENST00000643516.1:c.839G>T
ENST00000644218.1:c.1141G>T	ENSP00000493574.1:p.Ala381Ser
ENST00000644683.1:c.*783G>T	ENSP00000494085.1:n.*783G>T
ENST00000644810.1:c.1051G>T	ENSP00000495895.1:p.Ala351Ser
ENST00000644831.1:n.1506G>T
ENST00000644933.1:c.*196G>T	ENSP00000496133.1:n.*196G>T
ENST00000645285.1:c.*196G>T	ENSP00000495058.1:n.*196G>T
ENST00000645331.1:n.2535G>T
ENST00000645620.1:c.601G>T	ENSP00000493657.1:p.Ala201Ser
ENST00000646691.1:n.1217G>T
ENST00000646777.1:n.1663G>T
ENST00000647016.1:n.1810G>T
ENST00000647152.1:c.601G>T	ENSP00000495893.1:p.Ala201Ser
ENST00000647209.1:c.*1199G>T	ENSP00000495558.1:n.*1199G>T
ENST00000647346.1:n.2350G>T
ENST00000299427.10:c.1330G>T	ENSP00000299427.6:p.Ala444Ser
ENST00000524611.1:n.208G>T
ENST00000524924.1:n.285G>T
ENST00000532191.1:n.383G>T
ENST00000533371.5:c.601G>T	ENSP00000437066.1:p.Ala201Ser
ENST00000611494.4:c.1330G>T	ENSP00000484546.1:p.Ala444Ser
NM_000391.3:c.1330G>T	NP_000382.3:p.Ala444Ser
NM_000391.4:c.1330G>T MANE Select	NP_000382.3:p.Ala444Ser