Canonical Allele Identifier: CA379472083

Gene: TPP1

Linked Data

• gnomAD v4: 11-6614620-G-A
• MyVariant Identifiers: chr11:g.6635851G>A (hg19) ; chr11:g.6614620G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6614620G>A , CM000673.2:g.6614620G>A	GRCh38
NC_000011.9:g.6635851G>A , CM000673.1:g.6635851G>A	GRCh37
NC_000011.8:g.6592427G>A	NCBI36
NG_008653.1:g.9842C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682424.1:c.1504C>T	ENSP00000507321.1:p.Pro502Ser
ENST00000299427.12:c.1618C>T MANE Select	ENSP00000299427.6:p.Pro540Ser
ENST00000524611.2:n.657C>T
ENST00000524924.2:n.738C>T
ENST00000533371.6:c.889C>T	ENSP00000437066.1:p.Pro297Ser
ENST00000642892.1:c.889C>T	ENSP00000494165.1:p.Pro297Ser
ENST00000643342.1:c.691C>T
ENST00000643439.1:c.*1358C>T	ENSP00000495849.1:n.*1358C>T
ENST00000643479.1:n.1804C>T
ENST00000643516.1:c.1127C>T
ENST00000644218.1:c.1429C>T	ENSP00000493574.1:p.Pro477Ser
ENST00000644683.1:c.*1071C>T	ENSP00000494085.1:n.*1071C>T
ENST00000644810.1:c.1339C>T	ENSP00000495895.1:p.Pro447Ser
ENST00000644831.1:n.1794C>T
ENST00000644933.1:c.*484C>T	ENSP00000496133.1:n.*484C>T
ENST00000645285.1:c.*484C>T	ENSP00000495058.1:n.*484C>T
ENST00000645331.1:n.2823C>T
ENST00000645620.1:c.889C>T	ENSP00000493657.1:p.Pro297Ser
ENST00000646691.1:n.1505C>T
ENST00000646777.1:n.1951C>T
ENST00000647016.1:n.2098C>T
ENST00000647152.1:c.889C>T	ENSP00000495893.1:p.Pro297Ser
ENST00000647209.1:c.*1487C>T	ENSP00000495558.1:n.*1487C>T
ENST00000647346.1:n.2638C>T
ENST00000299427.10:c.1618C>T	ENSP00000299427.6:p.Pro540Ser
ENST00000533371.5:c.889C>T	ENSP00000437066.1:p.Pro297Ser
ENST00000611494.4:c.1618C>T	ENSP00000484546.1:p.Pro540Ser
NM_000391.3:c.1618C>T	NP_000382.3:p.Pro540Ser
NM_000391.4:c.1618C>T MANE Select	NP_000382.3:p.Pro540Ser