Canonical Allele Identifier: CA379474141

Gene: TPP1

Linked Data

• gnomAD v4: 11-6616368-T-A
• MyVariant Identifiers: chr11:g.6637599T>A (hg19) ; chr11:g.6616368T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616368T>A , CM000673.2:g.6616368T>A	GRCh38
NC_000011.9:g.6637599T>A , CM000673.1:g.6637599T>A	GRCh37
NC_000011.8:g.6594175T>A	NCBI36
NG_008653.1:g.8094A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.908A>T	ENSP00000507321.1:p.Asn303Ile
ENST00000299427.12:c.1022A>T MANE Select	ENSP00000299427.6:p.Asn341Ile
ENST00000436873.7:c.313-294A>T
ENST00000533371.6:c.293A>T	ENSP00000437066.1:p.Asn98Ile
ENST00000642892.1:c.293A>T	ENSP00000494165.1:p.Asn98Ile
ENST00000643342.1:c.112A>T
ENST00000643439.1:c.*762A>T	ENSP00000495849.1:n.*762A>T
ENST00000643479.1:n.1208A>T
ENST00000643516.1:c.531A>T
ENST00000644218.1:c.887-294A>T	ENSP00000493574.1:n.887-294A>T
ENST00000644683.1:c.*475A>T	ENSP00000494085.1:n.*475A>T
ENST00000644810.1:c.743A>T	ENSP00000495895.1:p.Asn248Ile
ENST00000644831.1:n.1198A>T
ENST00000644933.1:c.293A>T	ENSP00000496133.1:p.Asn98Ile
ENST00000645285.1:c.158-294A>T	ENSP00000495058.1:n.158-294A>T
ENST00000645331.1:n.1545A>T
ENST00000645620.1:c.293A>T	ENSP00000493657.1:p.Asn98Ile
ENST00000646691.1:n.115A>T
ENST00000646777.1:n.1355A>T
ENST00000647016.1:n.1502A>T
ENST00000647152.1:c.293A>T	ENSP00000495893.1:p.Asn98Ile
ENST00000647209.1:c.*891A>T	ENSP00000495558.1:n.*891A>T
ENST00000647346.1:n.2042A>T
ENST00000299427.10:c.1022A>T	ENSP00000299427.6:p.Asn341Ile
ENST00000533371.5:c.293A>T	ENSP00000437066.1:p.Asn98Ile
ENST00000611494.4:c.1022A>T	ENSP00000484546.1:p.Asn341Ile
NM_000391.3:c.1022A>T	NP_000382.3:p.Asn341Ile
NM_000391.4:c.1022A>T MANE Select	NP_000382.3:p.Asn341Ile