Canonical Allele Identifier: CA379473000

Gene: TPP1

Linked Data

• gnomAD v4: 11-6615507-T-C
• MyVariant Identifiers: chr11:g.6636738T>C (hg19) ; chr11:g.6615507T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615507T>C , CM000673.2:g.6615507T>C	GRCh38
NC_000011.9:g.6636738T>C , CM000673.1:g.6636738T>C	GRCh37
NC_000011.8:g.6593314T>C	NCBI36
NG_008653.1:g.8955A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1087A>G	ENSP00000507321.1:p.Asn363Asp
ENST00000299427.12:c.1201A>G MANE Select	ENSP00000299427.6:p.Asn401Asp
ENST00000436873.7:c.438A>G
ENST00000524924.2:n.321A>G
ENST00000533371.6:c.472A>G	ENSP00000437066.1:p.Asn158Asp
ENST00000642892.1:c.472A>G	ENSP00000494165.1:p.Asn158Asp
ENST00000643342.1:c.274A>G
ENST00000643439.1:c.*941A>G	ENSP00000495849.1:n.*941A>G
ENST00000643479.1:n.1387A>G
ENST00000643516.1:c.710A>G
ENST00000644218.1:c.1012A>G	ENSP00000493574.1:p.Asn338Asp
ENST00000644683.1:c.*654A>G	ENSP00000494085.1:n.*654A>G
ENST00000644810.1:c.922A>G	ENSP00000495895.1:p.Asn308Asp
ENST00000644831.1:n.1377A>G
ENST00000644933.1:c.*67A>G	ENSP00000496133.1:n.*67A>G
ENST00000645285.1:c.*67A>G	ENSP00000495058.1:n.*67A>G
ENST00000645331.1:n.2406A>G
ENST00000645620.1:c.472A>G	ENSP00000493657.1:p.Asn158Asp
ENST00000646691.1:n.976A>G
ENST00000646777.1:n.1534A>G
ENST00000647016.1:n.1681A>G
ENST00000647152.1:c.472A>G	ENSP00000495893.1:p.Asn158Asp
ENST00000647209.1:c.*1070A>G	ENSP00000495558.1:n.*1070A>G
ENST00000647346.1:n.2221A>G
ENST00000299427.10:c.1201A>G	ENSP00000299427.6:p.Asn401Asp
ENST00000524924.1:n.156A>G
ENST00000532191.1:n.254A>G
ENST00000533371.5:c.472A>G	ENSP00000437066.1:p.Asn158Asp
ENST00000611494.4:c.1201A>G	ENSP00000484546.1:p.Asn401Asp
NM_000391.3:c.1201A>G	NP_000382.3:p.Asn401Asp
NM_000391.4:c.1201A>G MANE Select	NP_000382.3:p.Asn401Asp