Canonical Allele Identifier: CA379472856

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6636673C>A (hg19) ; chr11:g.6615442C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615442C>A , CM000673.2:g.6615442C>A	GRCh38
NC_000011.9:g.6636673C>A , CM000673.1:g.6636673C>A	GRCh37
NC_000011.8:g.6593249C>A	NCBI36
NG_008653.1:g.9020G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1152G>T	ENSP00000507321.1:p.Gln384His
ENST00000299427.12:c.1266G>T MANE Select	ENSP00000299427.6:p.Gln422His
ENST00000436873.7:c.503G>T
ENST00000524611.2:n.14G>T
ENST00000524924.2:n.386G>T
ENST00000533371.6:c.537G>T	ENSP00000437066.1:p.Gln179His
ENST00000642892.1:c.537G>T	ENSP00000494165.1:p.Gln179His
ENST00000643342.1:c.339G>T
ENST00000643439.1:c.*1006G>T	ENSP00000495849.1:n.*1006G>T
ENST00000643479.1:n.1452G>T
ENST00000643516.1:c.775G>T
ENST00000644218.1:c.1077G>T	ENSP00000493574.1:p.Gln359His
ENST00000644683.1:c.*719G>T	ENSP00000494085.1:n.*719G>T
ENST00000644810.1:c.987G>T	ENSP00000495895.1:p.Gln329His
ENST00000644831.1:n.1442G>T
ENST00000644933.1:c.*132G>T	ENSP00000496133.1:n.*132G>T
ENST00000645285.1:c.*132G>T	ENSP00000495058.1:n.*132G>T
ENST00000645331.1:n.2471G>T
ENST00000645620.1:c.537G>T	ENSP00000493657.1:p.Gln179His
ENST00000646691.1:n.1041G>T
ENST00000646777.1:n.1599G>T
ENST00000647016.1:n.1746G>T
ENST00000647152.1:c.537G>T	ENSP00000495893.1:p.Gln179His
ENST00000647209.1:c.*1135G>T	ENSP00000495558.1:n.*1135G>T
ENST00000647346.1:n.2286G>T
ENST00000299427.10:c.1266G>T	ENSP00000299427.6:p.Gln422His
ENST00000524611.1:n.32G>T
ENST00000524924.1:n.221G>T
ENST00000532191.1:n.319G>T
ENST00000533371.5:c.537G>T	ENSP00000437066.1:p.Gln179His
ENST00000611494.4:c.1266G>T	ENSP00000484546.1:p.Gln422His
NM_000391.3:c.1266G>T	NP_000382.3:p.Gln422His
NM_000391.4:c.1266G>T MANE Select	NP_000382.3:p.Gln422His