Canonical Allele Identifier: CA379475360

Gene: TPP1

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.548G>A	ENSP00000507321.1:p.Ser183Asn
ENST00000299427.12:c.662G>A MANE Select	ENSP00000299427.6:p.Ser221Asn
ENST00000436873.7:c.312+301G>A
ENST00000524788.2:n.1821G>A
ENST00000524903.2:n.1937G>A
ENST00000528807.2:n.318G>A
ENST00000530040.2:n.479+359G>A
ENST00000533371.6:c.-68G>A	ENSP00000437066.1:n.-68G>A
ENST00000534644.6:n.610G>A
ENST00000642892.1:c.-68G>A	ENSP00000494165.1:n.-68G>A
ENST00000643439.1:c.*402G>A	ENSP00000495849.1:n.*402G>A
ENST00000643479.1:n.691G>A
ENST00000643516.1:c.395+301G>A
ENST00000644151.1:n.2101G>A
ENST00000644218.1:c.662G>A	ENSP00000493574.1:p.Ser221Asn
ENST00000644683.1:c.*115G>A	ENSP00000494085.1:n.*115G>A
ENST00000644810.1:c.383G>A	ENSP00000495895.1:p.Ser128Asn
ENST00000644831.1:n.838G>A
ENST00000644933.1:c.-68G>A	ENSP00000496133.1:n.-68G>A
ENST00000645020.1:n.1837G>A
ENST00000645285.1:c.-68G>A	ENSP00000495058.1:n.-68G>A
ENST00000645331.1:n.1028G>A
ENST00000645620.1:c.-68G>A	ENSP00000493657.1:n.-68G>A
ENST00000646777.1:n.838G>A
ENST00000647016.1:n.1142G>A
ENST00000647152.1:c.-68G>A	ENSP00000495893.1:n.-68G>A
ENST00000647209.1:c.*531G>A	ENSP00000495558.1:n.*531G>A
ENST00000647346.1:n.1682G>A
ENST00000299427.10:c.662G>A	ENSP00000299427.6:p.Ser221Asn
ENST00000428886.6:n.831G>A
ENST00000436873.6:c.450+359G>A	ENSP00000398136.2:n.450+359G>A
ENST00000524788.1:n.362G>A
ENST00000528571.5:c.*402G>A	ENSP00000434647.1:n.*402G>A
ENST00000528807.1:n.212G>A
ENST00000533371.5:c.-68G>A	ENSP00000437066.1:n.-68G>A
ENST00000611494.4:c.662G>A	ENSP00000484546.1:p.Ser221Asn
NM_000391.3:c.662G>A	NP_000382.3:p.Ser221Asn
NM_000391.4:c.662G>A MANE Select	NP_000382.3:p.Ser221Asn