Canonical Allele Identifier: CA5858895

Gene: TPP1

Linked Data

• ClinVar Variation Id: 1146816
• ClinVar RCV Id: RCV001486160
• dbSNP Id: rs768687217
• ExAC: 11:6638287 G / A
• gnomAD v2: 11-6638287-G-A
• gnomAD v3: 11-6617056-G-A
• gnomAD v4: 11-6617056-G-A
• MyVariant Identifiers: chr11:g.6638287G>A (hg19) ; chr11:g.6617056G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617056G>A , CM000673.2:g.6617056G>A	GRCh38
NC_000011.9:g.6638287G>A , CM000673.1:g.6638287G>A	GRCh37
NC_000011.8:g.6594863G>A	NCBI36
NG_008653.1:g.7406C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.492C>T	ENSP00000507321.1:p.Pro164=
ENST00000299427.12:c.606C>T MANE Select	ENSP00000299427.6:p.Pro202=
ENST00000436873.7:c.312+245C>T
ENST00000524788.2:n.1765C>T
ENST00000524903.2:n.1881C>T
ENST00000528807.2:n.262C>T
ENST00000530040.2:n.479+303C>T
ENST00000533371.6:c.-124C>T	ENSP00000437066.1:n.-124C>T
ENST00000534644.6:n.554C>T
ENST00000642892.1:c.-124C>T	ENSP00000494165.1:n.-124C>T
ENST00000643439.1:c.*346C>T	ENSP00000495849.1:n.*346C>T
ENST00000643479.1:n.635C>T
ENST00000643516.1:c.395+245C>T
ENST00000644151.1:n.2045C>T
ENST00000644218.1:c.606C>T	ENSP00000493574.1:p.Pro202=
ENST00000644683.1:c.*59C>T	ENSP00000494085.1:n.*59C>T
ENST00000644810.1:c.327C>T	ENSP00000495895.1:p.Pro109=
ENST00000644831.1:n.782C>T
ENST00000644933.1:c.-124C>T	ENSP00000496133.1:n.-124C>T
ENST00000645020.1:n.1781C>T
ENST00000645285.1:c.-124C>T	ENSP00000495058.1:n.-124C>T
ENST00000645331.1:n.972C>T
ENST00000645620.1:c.-124C>T	ENSP00000493657.1:n.-124C>T
ENST00000646777.1:n.782C>T
ENST00000647016.1:n.1086C>T
ENST00000647152.1:c.-124C>T	ENSP00000495893.1:n.-124C>T
ENST00000647209.1:c.*475C>T	ENSP00000495558.1:n.*475C>T
ENST00000647346.1:n.1626C>T
ENST00000299427.10:c.606C>T	ENSP00000299427.6:p.Pro202=
ENST00000428886.6:n.775C>T
ENST00000436873.6:c.450+303C>T	ENSP00000398136.2:n.450+303C>T
ENST00000524788.1:n.306C>T
ENST00000528571.5:c.*346C>T	ENSP00000434647.1:n.*346C>T
ENST00000528807.1:n.156C>T
ENST00000533371.5:c.-124C>T	ENSP00000437066.1:n.-124C>T
ENST00000534644.5:n.591C>T
ENST00000611494.4:c.606C>T	ENSP00000484546.1:p.Pro202=
NM_000391.3:c.606C>T	NP_000382.3:p.Pro202=
NM_000391.4:c.606C>T MANE Select	NP_000382.3:p.Pro202=