Canonical Allele Identifier: CA379475007

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6637957C>A (hg19) ; chr11:g.6616726C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616726C>A , CM000673.2:g.6616726C>A	GRCh38
NC_000011.9:g.6637957C>A , CM000673.1:g.6637957C>A	GRCh37
NC_000011.8:g.6594533C>A	NCBI36
NG_008653.1:g.7736G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.707G>T	ENSP00000507321.1:p.Ser236Ile
ENST00000299427.12:c.821G>T MANE Select	ENSP00000299427.6:p.Ser274Ile
ENST00000436873.7:c.312+575G>T
ENST00000524788.2:n.1980G>T
ENST00000524903.2:n.2096G>T
ENST00000528807.2:n.477G>T
ENST00000530040.2:n.480-223G>T
ENST00000533371.6:c.92G>T	ENSP00000437066.1:p.Ser31Ile
ENST00000642892.1:c.92G>T	ENSP00000494165.1:p.Ser31Ile
ENST00000643439.1:c.*561G>T	ENSP00000495849.1:n.*561G>T
ENST00000643479.1:n.850G>T
ENST00000643516.1:c.396-223G>T
ENST00000644151.1:n.2260G>T
ENST00000644218.1:c.821G>T	ENSP00000493574.1:p.Ser274Ile
ENST00000644683.1:c.*274G>T	ENSP00000494085.1:n.*274G>T
ENST00000644810.1:c.542G>T	ENSP00000495895.1:p.Ser181Ile
ENST00000644831.1:n.997G>T
ENST00000644933.1:c.92G>T	ENSP00000496133.1:p.Ser31Ile
ENST00000645020.1:n.2111G>T
ENST00000645285.1:c.92G>T	ENSP00000495058.1:p.Ser31Ile
ENST00000645331.1:n.1187G>T
ENST00000645620.1:c.92G>T	ENSP00000493657.1:p.Ser31Ile
ENST00000646777.1:n.997G>T
ENST00000647016.1:n.1301G>T
ENST00000647152.1:c.92G>T	ENSP00000495893.1:p.Ser31Ile
ENST00000647209.1:c.*690G>T	ENSP00000495558.1:n.*690G>T
ENST00000647346.1:n.1841G>T
ENST00000299427.10:c.821G>T	ENSP00000299427.6:p.Ser274Ile
ENST00000436873.6:c.451-223G>T	ENSP00000398136.2:n.451-223G>T
ENST00000524788.1:n.521G>T
ENST00000528807.1:n.371G>T
ENST00000533371.5:c.92G>T	ENSP00000437066.1:p.Ser31Ile
ENST00000611494.4:c.821G>T	ENSP00000484546.1:p.Ser274Ile
NM_000391.3:c.821G>T	NP_000382.3:p.Ser274Ile
NM_000391.4:c.821G>T MANE Select	NP_000382.3:p.Ser274Ile