Canonical Allele Identifier: CA5858674

Gene: TPP1

Linked Data

• dbSNP Id: rs754243461
• ExAC: 11:6636500 T / G
• gnomAD v2: 11-6636500-T-G
• gnomAD v3: 11-6615269-T-G
• gnomAD v4: 11-6615269-T-G
• MyVariant Identifiers: chr11:g.6636500T>G (hg19) ; chr11:g.6615269T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615269T>G , CM000673.2:g.6615269T>G	GRCh38
NC_000011.9:g.6636500T>G , CM000673.1:g.6636500T>G	GRCh37
NC_000011.8:g.6593076T>G	NCBI36
NG_008653.1:g.9193A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682424.1:c.1213A>C	ENSP00000507321.1:p.Asn405His
ENST00000299427.12:c.1327A>C MANE Select	ENSP00000299427.6:p.Asn443His
ENST00000524611.2:n.187A>C
ENST00000524924.2:n.447A>C
ENST00000533371.6:c.598A>C	ENSP00000437066.1:p.Asn200His
ENST00000642892.1:c.598A>C	ENSP00000494165.1:p.Asn200His
ENST00000643342.1:c.400A>C
ENST00000643439.1:c.*1067A>C	ENSP00000495849.1:n.*1067A>C
ENST00000643479.1:n.1513A>C
ENST00000643516.1:c.836A>C
ENST00000644218.1:c.1138A>C	ENSP00000493574.1:p.Asn380His
ENST00000644683.1:c.*780A>C	ENSP00000494085.1:n.*780A>C
ENST00000644810.1:c.1048A>C	ENSP00000495895.1:p.Asn350His
ENST00000644831.1:n.1503A>C
ENST00000644933.1:c.*193A>C	ENSP00000496133.1:n.*193A>C
ENST00000645285.1:c.*193A>C	ENSP00000495058.1:n.*193A>C
ENST00000645331.1:n.2532A>C
ENST00000645620.1:c.598A>C	ENSP00000493657.1:p.Asn200His
ENST00000646691.1:n.1214A>C
ENST00000646777.1:n.1660A>C
ENST00000647016.1:n.1807A>C
ENST00000647152.1:c.598A>C	ENSP00000495893.1:p.Asn200His
ENST00000647209.1:c.*1196A>C	ENSP00000495558.1:n.*1196A>C
ENST00000647346.1:n.2347A>C
ENST00000299427.10:c.1327A>C	ENSP00000299427.6:p.Asn443His
ENST00000524611.1:n.205A>C
ENST00000524924.1:n.282A>C
ENST00000532191.1:n.380A>C
ENST00000533371.5:c.598A>C	ENSP00000437066.1:p.Asn200His
ENST00000611494.4:c.1327A>C	ENSP00000484546.1:p.Asn443His
NM_000391.3:c.1327A>C	NP_000382.3:p.Asn443His
NM_000391.4:c.1327A>C MANE Select	NP_000382.3:p.Asn443His