Canonical Allele Identifier: CA217321761

Gene: TPP1

Linked Data

• dbSNP Id: rs146798796
• gnomAD v4: 11-6615467-T-C
• MyVariant Identifiers: chr11:g.6636698T>C (hg19) ; chr11:g.6615467T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615467T>C , CM000673.2:g.6615467T>C	GRCh38
NC_000011.9:g.6636698T>C , CM000673.1:g.6636698T>C	GRCh37
NC_000011.8:g.6593274T>C	NCBI36
NG_008653.1:g.8995A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1127A>G	ENSP00000507321.1:p.Asn376Ser
ENST00000299427.12:c.1241A>G MANE Select	ENSP00000299427.6:p.Asn414Ser
ENST00000436873.7:c.478A>G
ENST00000524924.2:n.361A>G
ENST00000533371.6:c.512A>G	ENSP00000437066.1:p.Asn171Ser
ENST00000642892.1:c.512A>G	ENSP00000494165.1:p.Asn171Ser
ENST00000643342.1:c.314A>G
ENST00000643439.1:c.*981A>G	ENSP00000495849.1:n.*981A>G
ENST00000643479.1:n.1427A>G
ENST00000643516.1:c.750A>G
ENST00000644218.1:c.1052A>G	ENSP00000493574.1:p.Asn351Ser
ENST00000644683.1:c.*694A>G	ENSP00000494085.1:n.*694A>G
ENST00000644810.1:c.962A>G	ENSP00000495895.1:p.Asn321Ser
ENST00000644831.1:n.1417A>G
ENST00000644933.1:c.*107A>G	ENSP00000496133.1:n.*107A>G
ENST00000645285.1:c.*107A>G	ENSP00000495058.1:n.*107A>G
ENST00000645331.1:n.2446A>G
ENST00000645620.1:c.512A>G	ENSP00000493657.1:p.Asn171Ser
ENST00000646691.1:n.1016A>G
ENST00000646777.1:n.1574A>G
ENST00000647016.1:n.1721A>G
ENST00000647152.1:c.512A>G	ENSP00000495893.1:p.Asn171Ser
ENST00000647209.1:c.*1110A>G	ENSP00000495558.1:n.*1110A>G
ENST00000647346.1:n.2261A>G
ENST00000299427.10:c.1241A>G	ENSP00000299427.6:p.Asn414Ser
ENST00000524611.1:n.7A>G
ENST00000524924.1:n.196A>G
ENST00000532191.1:n.294A>G
ENST00000533371.5:c.512A>G	ENSP00000437066.1:p.Asn171Ser
ENST00000611494.4:c.1241A>G	ENSP00000484546.1:p.Asn414Ser
NM_000391.3:c.1241A>G	NP_000382.3:p.Asn414Ser
NM_000391.4:c.1241A>G MANE Select	NP_000382.3:p.Asn414Ser