Canonical Allele Identifier: CA379475358

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6638231C>A (hg19) ; chr11:g.6617000C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617000C>A , CM000673.2:g.6617000C>A	GRCh38
NC_000011.9:g.6638231C>A , CM000673.1:g.6638231C>A	GRCh37
NC_000011.8:g.6594807C>A	NCBI36
NG_008653.1:g.7462G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.548G>T	ENSP00000507321.1:p.Ser183Ile
ENST00000299427.12:c.662G>T MANE Select	ENSP00000299427.6:p.Ser221Ile
ENST00000436873.7:c.312+301G>T
ENST00000524788.2:n.1821G>T
ENST00000524903.2:n.1937G>T
ENST00000528807.2:n.318G>T
ENST00000530040.2:n.479+359G>T
ENST00000533371.6:c.-68G>T	ENSP00000437066.1:n.-68G>T
ENST00000534644.6:n.610G>T
ENST00000642892.1:c.-68G>T	ENSP00000494165.1:n.-68G>T
ENST00000643439.1:c.*402G>T	ENSP00000495849.1:n.*402G>T
ENST00000643479.1:n.691G>T
ENST00000643516.1:c.395+301G>T
ENST00000644151.1:n.2101G>T
ENST00000644218.1:c.662G>T	ENSP00000493574.1:p.Ser221Ile
ENST00000644683.1:c.*115G>T	ENSP00000494085.1:n.*115G>T
ENST00000644810.1:c.383G>T	ENSP00000495895.1:p.Ser128Ile
ENST00000644831.1:n.838G>T
ENST00000644933.1:c.-68G>T	ENSP00000496133.1:n.-68G>T
ENST00000645020.1:n.1837G>T
ENST00000645285.1:c.-68G>T	ENSP00000495058.1:n.-68G>T
ENST00000645331.1:n.1028G>T
ENST00000645620.1:c.-68G>T	ENSP00000493657.1:n.-68G>T
ENST00000646777.1:n.838G>T
ENST00000647016.1:n.1142G>T
ENST00000647152.1:c.-68G>T	ENSP00000495893.1:n.-68G>T
ENST00000647209.1:c.*531G>T	ENSP00000495558.1:n.*531G>T
ENST00000647346.1:n.1682G>T
ENST00000299427.10:c.662G>T	ENSP00000299427.6:p.Ser221Ile
ENST00000428886.6:n.831G>T
ENST00000436873.6:c.450+359G>T	ENSP00000398136.2:n.450+359G>T
ENST00000524788.1:n.362G>T
ENST00000528571.5:c.*402G>T	ENSP00000434647.1:n.*402G>T
ENST00000528807.1:n.212G>T
ENST00000533371.5:c.-68G>T	ENSP00000437066.1:n.-68G>T
ENST00000611494.4:c.662G>T	ENSP00000484546.1:p.Ser221Ile
NM_000391.3:c.662G>T	NP_000382.3:p.Ser221Ile
NM_000391.4:c.662G>T MANE Select	NP_000382.3:p.Ser221Ile