Canonical Allele Identifier: CA379472712

Gene: TPP1

Linked Data

• gnomAD v4: 11-6615268-T-G
• MyVariant Identifiers: chr11:g.6636499T>G (hg19) ; chr11:g.6615268T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615268T>G , CM000673.2:g.6615268T>G	GRCh38
NC_000011.9:g.6636499T>G , CM000673.1:g.6636499T>G	GRCh37
NC_000011.8:g.6593075T>G	NCBI36
NG_008653.1:g.9194A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682424.1:c.1214A>C	ENSP00000507321.1:p.Asn405Thr
ENST00000299427.12:c.1328A>C MANE Select	ENSP00000299427.6:p.Asn443Thr
ENST00000524611.2:n.188A>C
ENST00000524924.2:n.448A>C
ENST00000533371.6:c.599A>C	ENSP00000437066.1:p.Asn200Thr
ENST00000642892.1:c.599A>C	ENSP00000494165.1:p.Asn200Thr
ENST00000643342.1:c.401A>C
ENST00000643439.1:c.*1068A>C	ENSP00000495849.1:n.*1068A>C
ENST00000643479.1:n.1514A>C
ENST00000643516.1:c.837A>C
ENST00000644218.1:c.1139A>C	ENSP00000493574.1:p.Asn380Thr
ENST00000644683.1:c.*781A>C	ENSP00000494085.1:n.*781A>C
ENST00000644810.1:c.1049A>C	ENSP00000495895.1:p.Asn350Thr
ENST00000644831.1:n.1504A>C
ENST00000644933.1:c.*194A>C	ENSP00000496133.1:n.*194A>C
ENST00000645285.1:c.*194A>C	ENSP00000495058.1:n.*194A>C
ENST00000645331.1:n.2533A>C
ENST00000645620.1:c.599A>C	ENSP00000493657.1:p.Asn200Thr
ENST00000646691.1:n.1215A>C
ENST00000646777.1:n.1661A>C
ENST00000647016.1:n.1808A>C
ENST00000647152.1:c.599A>C	ENSP00000495893.1:p.Asn200Thr
ENST00000647209.1:c.*1197A>C	ENSP00000495558.1:n.*1197A>C
ENST00000647346.1:n.2348A>C
ENST00000299427.10:c.1328A>C	ENSP00000299427.6:p.Asn443Thr
ENST00000524611.1:n.206A>C
ENST00000524924.1:n.283A>C
ENST00000532191.1:n.381A>C
ENST00000533371.5:c.599A>C	ENSP00000437066.1:p.Asn200Thr
ENST00000611494.4:c.1328A>C	ENSP00000484546.1:p.Asn443Thr
NM_000391.3:c.1328A>C	NP_000382.3:p.Asn443Thr
NM_000391.4:c.1328A>C MANE Select	NP_000382.3:p.Asn443Thr