Canonical Allele Identifier: CA379472821

Gene: TPP1

Linked Data

• gnomAD v4: 11-6615320-C-T
• MyVariant Identifiers: chr11:g.6636551C>T (hg19) ; chr11:g.6615320C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615320C>T , CM000673.2:g.6615320C>T	GRCh38
NC_000011.9:g.6636551C>T , CM000673.1:g.6636551C>T	GRCh37
NC_000011.8:g.6593127C>T	NCBI36
NG_008653.1:g.9142G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1162G>A	ENSP00000507321.1:p.Val388Ile
ENST00000299427.12:c.1276G>A MANE Select	ENSP00000299427.6:p.Val426Ile
ENST00000524611.2:n.136G>A
ENST00000524924.2:n.396G>A
ENST00000533371.6:c.547G>A	ENSP00000437066.1:p.Val183Ile
ENST00000642892.1:c.547G>A	ENSP00000494165.1:p.Val183Ile
ENST00000643342.1:c.349G>A
ENST00000643439.1:c.*1016G>A	ENSP00000495849.1:n.*1016G>A
ENST00000643479.1:n.1462G>A
ENST00000643516.1:c.785G>A
ENST00000644218.1:c.1087G>A	ENSP00000493574.1:p.Val363Ile
ENST00000644683.1:c.*729G>A	ENSP00000494085.1:n.*729G>A
ENST00000644810.1:c.997G>A	ENSP00000495895.1:p.Val333Ile
ENST00000644831.1:n.1452G>A
ENST00000644933.1:c.*142G>A	ENSP00000496133.1:n.*142G>A
ENST00000645285.1:c.*142G>A	ENSP00000495058.1:n.*142G>A
ENST00000645331.1:n.2481G>A
ENST00000645620.1:c.547G>A	ENSP00000493657.1:p.Val183Ile
ENST00000646691.1:n.1163G>A
ENST00000646777.1:n.1609G>A
ENST00000647016.1:n.1756G>A
ENST00000647152.1:c.547G>A	ENSP00000495893.1:p.Val183Ile
ENST00000647209.1:c.*1145G>A	ENSP00000495558.1:n.*1145G>A
ENST00000647346.1:n.2296G>A
ENST00000299427.10:c.1276G>A	ENSP00000299427.6:p.Val426Ile
ENST00000524611.1:n.154G>A
ENST00000524924.1:n.231G>A
ENST00000532191.1:n.329G>A
ENST00000533371.5:c.547G>A	ENSP00000437066.1:p.Val183Ile
ENST00000611494.4:c.1276G>A	ENSP00000484546.1:p.Val426Ile
NM_000391.3:c.1276G>A	NP_000382.3:p.Val426Ile
NM_000391.4:c.1276G>A MANE Select	NP_000382.3:p.Val426Ile