Canonical Allele Identifier: CA379473702

Gene: TPP1

Linked Data

• dbSNP Id: rs1745283767
• gnomAD v3: 11-6616024-G-A
• gnomAD v4: 11-6616024-G-A
• MyVariant Identifiers: chr11:g.6637255G>A (hg19) ; chr11:g.6616024G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616024G>A , CM000673.2:g.6616024G>A	GRCh38
NC_000011.9:g.6637255G>A , CM000673.1:g.6637255G>A	GRCh37
NC_000011.8:g.6593831G>A	NCBI36
NG_008653.1:g.8438C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1012C>T	ENSP00000507321.1:p.Pro338Ser
ENST00000299427.12:c.1126C>T MANE Select	ENSP00000299427.6:p.Pro376Ser
ENST00000436873.7:c.363C>T
ENST00000524924.2:n.246C>T
ENST00000533371.6:c.397C>T	ENSP00000437066.1:p.Pro133Ser
ENST00000642892.1:c.397C>T	ENSP00000494165.1:p.Pro133Ser
ENST00000643342.1:c.216C>T
ENST00000643439.1:c.*866C>T	ENSP00000495849.1:n.*866C>T
ENST00000643479.1:n.1312C>T
ENST00000643516.1:c.635C>T
ENST00000644218.1:c.937C>T	ENSP00000493574.1:p.Pro313Ser
ENST00000644683.1:c.*579C>T	ENSP00000494085.1:n.*579C>T
ENST00000644810.1:c.847C>T	ENSP00000495895.1:p.Pro283Ser
ENST00000644831.1:n.1302C>T
ENST00000644933.1:c.397C>T	ENSP00000496133.1:p.Pro133Ser
ENST00000645285.1:c.208C>T	ENSP00000495058.1:p.Pro70Ser
ENST00000645331.1:n.1889C>T
ENST00000645620.1:c.397C>T	ENSP00000493657.1:p.Pro133Ser
ENST00000646691.1:n.459C>T
ENST00000646777.1:n.1459C>T
ENST00000647016.1:n.1606C>T
ENST00000647152.1:c.397C>T	ENSP00000495893.1:p.Pro133Ser
ENST00000647209.1:c.*995C>T	ENSP00000495558.1:n.*995C>T
ENST00000647346.1:n.2146C>T
ENST00000299427.10:c.1126C>T	ENSP00000299427.6:p.Pro376Ser
ENST00000524924.1:n.81C>T
ENST00000533371.5:c.397C>T	ENSP00000437066.1:p.Pro133Ser
ENST00000611494.4:c.1126C>T	ENSP00000484546.1:p.Pro376Ser
NM_000391.3:c.1126C>T	NP_000382.3:p.Pro376Ser
NM_000391.4:c.1126C>T MANE Select	NP_000382.3:p.Pro376Ser