Canonical Allele Identifier: CA597439889

Gene: TPP1

Linked Data

• dbSNP Id: rs1407256796
• gnomAD v2: 11-6636653-A-G
• gnomAD v4: 11-6615422-A-G
• MyVariant Identifiers: chr11:g.6636653A>G (hg19) ; chr11:g.6615422A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615422A>G , CM000673.2:g.6615422A>G	GRCh38
NC_000011.9:g.6636653A>G , CM000673.1:g.6636653A>G	GRCh37
NC_000011.8:g.6593229A>G	NCBI36
NG_008653.1:g.9040T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1152+20T>C	ENSP00000507321.1:n.1152+20T>C
ENST00000299427.12:c.1266+20T>C MANE Select	ENSP00000299427.6:n.1266+20T>C
ENST00000436873.7:c.503+20T>C
ENST00000524611.2:n.34T>C
ENST00000524924.2:n.386+20T>C
ENST00000533371.6:c.537+20T>C	ENSP00000437066.1:n.537+20T>C
ENST00000642892.1:c.537+20T>C	ENSP00000494165.1:n.537+20T>C
ENST00000643342.1:c.339+20T>C
ENST00000643439.1:c.*1006+20T>C	ENSP00000495849.1:n.*1006+20T>C
ENST00000643479.1:n.1452+20T>C
ENST00000643516.1:c.775+20T>C
ENST00000644218.1:c.1077+20T>C	ENSP00000493574.1:n.1077+20T>C
ENST00000644683.1:c.*719+20T>C	ENSP00000494085.1:n.*719+20T>C
ENST00000644810.1:c.987+20T>C	ENSP00000495895.1:n.987+20T>C
ENST00000644831.1:n.1442+20T>C
ENST00000644933.1:c.*132+20T>C	ENSP00000496133.1:n.*132+20T>C
ENST00000645285.1:c.*132+20T>C	ENSP00000495058.1:n.*132+20T>C
ENST00000645331.1:n.2471+20T>C
ENST00000645620.1:c.537+20T>C	ENSP00000493657.1:n.537+20T>C
ENST00000646691.1:n.1061T>C
ENST00000646777.1:n.1599+20T>C
ENST00000647016.1:n.1746+20T>C
ENST00000647152.1:c.537+20T>C	ENSP00000495893.1:n.537+20T>C
ENST00000647209.1:c.*1135+20T>C	ENSP00000495558.1:n.*1135+20T>C
ENST00000647346.1:n.2286+20T>C
ENST00000299427.10:c.1266+20T>C	ENSP00000299427.6:n.1266+20T>C
ENST00000524611.1:n.52T>C
ENST00000524924.1:n.221+20T>C
ENST00000532191.1:n.319+20T>C
ENST00000533371.5:c.537+20T>C	ENSP00000437066.1:n.537+20T>C
ENST00000611494.4:c.1266+20T>C	ENSP00000484546.1:n.1266+20T>C
NM_000391.3:c.1266+20T>C	NP_000382.3:n.1266+20T>C
NM_000391.4:c.1266+20T>C MANE Select	NP_000382.3:n.1266+20T>C