Canonical Allele Identifier: CA217323919

Gene: TPP1

Linked Data

• ClinVar Variation Id: 2201154
• ClinVar RCV Id: RCV002638591
• dbSNP Id: rs553522118
• gnomAD v3: 11-6617338-G-A
• gnomAD v4: 11-6617338-G-A
• MyVariant Identifiers: chr11:g.6638569G>A (hg19) ; chr11:g.6617338G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617338G>A , CM000673.2:g.6617338G>A	GRCh38
NC_000011.9:g.6638569G>A , CM000673.1:g.6638569G>A	GRCh37
NC_000011.8:g.6595145G>A	NCBI36
NG_008653.1:g.7124C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.357C>T	ENSP00000507321.1:p.Tyr119=
ENST00000299427.12:c.471C>T MANE Select	ENSP00000299427.6:p.Tyr157=
ENST00000428886.7:n.559C>T
ENST00000436873.7:c.275C>T
ENST00000524788.2:n.1483C>T
ENST00000524903.2:n.1599C>T
ENST00000528571.6:c.*211C>T	ENSP00000434647.1:n.*211C>T
ENST00000528807.2:n.127C>T
ENST00000530040.2:n.479+21C>T
ENST00000533371.6:c.-259C>T	ENSP00000437066.1:n.-259C>T
ENST00000534644.6:n.456+16C>T
ENST00000642892.1:c.-222+16C>T	ENSP00000494165.1:n.-222+16C>T
ENST00000643439.1:c.*211C>T	ENSP00000495849.1:n.*211C>T
ENST00000643479.1:n.500C>T
ENST00000643516.1:c.358C>T
ENST00000644151.1:n.1763C>T
ENST00000644218.1:c.471C>T	ENSP00000493574.1:p.Tyr157=
ENST00000644683.1:c.450+21C>T	ENSP00000494085.1:n.450+21C>T
ENST00000644810.1:c.230-185C>T	ENSP00000495895.1:n.230-185C>T
ENST00000644831.1:n.500C>T
ENST00000644933.1:c.-259C>T	ENSP00000496133.1:n.-259C>T
ENST00000645020.1:n.1499C>T
ENST00000645285.1:c.-259C>T	ENSP00000495058.1:n.-259C>T
ENST00000645331.1:n.690C>T
ENST00000645620.1:c.-222+21C>T	ENSP00000493657.1:n.-222+21C>T
ENST00000646777.1:n.500C>T
ENST00000647016.1:n.804C>T
ENST00000647152.1:c.-259C>T	ENSP00000495893.1:n.-259C>T
ENST00000647209.1:c.*340C>T	ENSP00000495558.1:n.*340C>T
ENST00000647346.1:n.1491C>T
ENST00000299427.10:c.471C>T	ENSP00000299427.6:p.Tyr157=
ENST00000428886.6:n.493C>T
ENST00000436873.6:c.450+21C>T	ENSP00000398136.2:n.450+21C>T
ENST00000524788.1:n.24C>T
ENST00000528571.5:c.*211C>T	ENSP00000434647.1:n.*211C>T
ENST00000533371.5:c.-259C>T	ENSP00000437066.1:n.-259C>T
ENST00000534644.5:n.456C>T
ENST00000611494.4:c.471C>T	ENSP00000484546.1:p.Tyr157=
NM_000391.3:c.471C>T	NP_000382.3:p.Tyr157=
NM_000391.4:c.471C>T MANE Select	NP_000382.3:p.Tyr157=