Canonical Allele Identifier: CA472922822

Gene: TPP1

Linked Data

• ClinVar Variation Id: 527786
• ClinVar RCV Id: RCV000632773
• dbSNP Id: rs1554901936
• gnomAD v2: 11-6638224-G-A
• gnomAD v4: 11-6616993-G-A
• MyVariant Identifiers: chr11:g.6638224G>A (hg19) ; chr11:g.6638224_6638225delinsAT (hg19) ; chr11:g.6616993G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616993G>A , CM000673.2:g.6616993G>A	GRCh38
NC_000011.9:g.6638224G>A , CM000673.1:g.6638224G>A	GRCh37
NC_000011.8:g.6594800G>A	NCBI36
NG_008653.1:g.7469C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.555C>T	ENSP00000507321.1:p.Asn185=
ENST00000299427.12:c.669C>T MANE Select	ENSP00000299427.6:p.Asn223=
ENST00000436873.7:c.312+308C>T
ENST00000524788.2:n.1828C>T
ENST00000524903.2:n.1944C>T
ENST00000528807.2:n.325C>T
ENST00000530040.2:n.479+366C>T
ENST00000533371.6:c.-61C>T	ENSP00000437066.1:n.-61C>T
ENST00000534644.6:n.617C>T
ENST00000642892.1:c.-61C>T	ENSP00000494165.1:n.-61C>T
ENST00000643439.1:c.*409C>T	ENSP00000495849.1:n.*409C>T
ENST00000643479.1:n.698C>T
ENST00000643516.1:c.395+308C>T
ENST00000644151.1:n.2108C>T
ENST00000644218.1:c.669C>T	ENSP00000493574.1:p.Asn223=
ENST00000644683.1:c.*122C>T	ENSP00000494085.1:n.*122C>T
ENST00000644810.1:c.390C>T	ENSP00000495895.1:p.Asn130=
ENST00000644831.1:n.845C>T
ENST00000644933.1:c.-61C>T	ENSP00000496133.1:n.-61C>T
ENST00000645020.1:n.1844C>T
ENST00000645285.1:c.-61C>T	ENSP00000495058.1:n.-61C>T
ENST00000645331.1:n.1035C>T
ENST00000645620.1:c.-61C>T	ENSP00000493657.1:n.-61C>T
ENST00000646777.1:n.845C>T
ENST00000647016.1:n.1149C>T
ENST00000647152.1:c.-61C>T	ENSP00000495893.1:n.-61C>T
ENST00000647209.1:c.*538C>T	ENSP00000495558.1:n.*538C>T
ENST00000647346.1:n.1689C>T
ENST00000299427.10:c.669C>T	ENSP00000299427.6:p.Asn223=
ENST00000428886.6:n.838C>T
ENST00000436873.6:c.450+366C>T	ENSP00000398136.2:n.450+366C>T
ENST00000524788.1:n.369C>T
ENST00000528571.5:c.*409C>T	ENSP00000434647.1:n.*409C>T
ENST00000528807.1:n.219C>T
ENST00000533371.5:c.-61C>T	ENSP00000437066.1:n.-61C>T
ENST00000611494.4:c.669C>T	ENSP00000484546.1:p.Asn223=
NM_000391.3:c.669C>T	NP_000382.3:p.Asn223=
NM_000391.4:c.669C>T MANE Select	NP_000382.3:p.Asn223=