Canonical Allele Identifier: CA597439885

Gene: TPP1

Linked Data

• dbSNP Id: rs1444821524
• gnomAD v2: 11-6636624-T-A
• MyVariant Identifiers: chr11:g.6636624T>A (hg19) ; chr11:g.6615393T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615393T>A , CM000673.2:g.6615393T>A	GRCh38
NC_000011.9:g.6636624T>A , CM000673.1:g.6636624T>A	GRCh37
NC_000011.8:g.6593200T>A	NCBI36
NG_008653.1:g.9069A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1152+49A>T	ENSP00000507321.1:n.1152+49A>T
ENST00000299427.12:c.1266+49A>T MANE Select	ENSP00000299427.6:n.1266+49A>T
ENST00000436873.7:c.503+49A>T
ENST00000524611.2:n.63A>T
ENST00000524924.2:n.386+49A>T
ENST00000533371.6:c.537+49A>T	ENSP00000437066.1:n.537+49A>T
ENST00000642892.1:c.537+49A>T	ENSP00000494165.1:n.537+49A>T
ENST00000643342.1:c.339+49A>T
ENST00000643439.1:c.*1006+49A>T	ENSP00000495849.1:n.*1006+49A>T
ENST00000643479.1:n.1452+49A>T
ENST00000643516.1:c.775+49A>T
ENST00000644218.1:c.1077+49A>T	ENSP00000493574.1:n.1077+49A>T
ENST00000644683.1:c.*719+49A>T	ENSP00000494085.1:n.*719+49A>T
ENST00000644810.1:c.987+49A>T	ENSP00000495895.1:n.987+49A>T
ENST00000644831.1:n.1442+49A>T
ENST00000644933.1:c.*132+49A>T	ENSP00000496133.1:n.*132+49A>T
ENST00000645285.1:c.*132+49A>T	ENSP00000495058.1:n.*132+49A>T
ENST00000645331.1:n.2471+49A>T
ENST00000645620.1:c.537+49A>T	ENSP00000493657.1:n.537+49A>T
ENST00000646691.1:n.1090A>T
ENST00000646777.1:n.1599+49A>T
ENST00000647016.1:n.1746+49A>T
ENST00000647152.1:c.537+49A>T	ENSP00000495893.1:n.537+49A>T
ENST00000647209.1:c.*1135+49A>T	ENSP00000495558.1:n.*1135+49A>T
ENST00000647346.1:n.2286+49A>T
ENST00000299427.10:c.1266+49A>T	ENSP00000299427.6:n.1266+49A>T
ENST00000524611.1:n.81A>T
ENST00000524924.1:n.221+49A>T
ENST00000532191.1:n.319+49A>T
ENST00000533371.5:c.537+49A>T	ENSP00000437066.1:n.537+49A>T
ENST00000611494.4:c.1266+49A>T	ENSP00000484546.1:n.1266+49A>T
NM_000391.3:c.1266+49A>T	NP_000382.3:n.1266+49A>T
NM_000391.4:c.1266+49A>T MANE Select	NP_000382.3:n.1266+49A>T