Canonical Allele Identifier: CA379472049

Gene: TPP1

Linked Data

• ClinVar Variation Id: 2130987
• ClinVar RCV Id: RCV003047977
• dbSNP Id: rs1855546959
• MyVariant Identifiers: chr11:g.6635836C>A (hg19) ; chr11:g.6614605C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6614605C>A , CM000673.2:g.6614605C>A	GRCh38
NC_000011.9:g.6635836C>A , CM000673.1:g.6635836C>A	GRCh37
NC_000011.8:g.6592412C>A	NCBI36
NG_008653.1:g.9857G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1519G>T	ENSP00000507321.1:p.Val507Leu
ENST00000299427.12:c.1633G>T MANE Select	ENSP00000299427.6:p.Val545Leu
ENST00000524611.2:n.672G>T
ENST00000524924.2:n.753G>T
ENST00000533371.6:c.904G>T	ENSP00000437066.1:p.Val302Leu
ENST00000642892.1:c.904G>T	ENSP00000494165.1:p.Val302Leu
ENST00000643342.1:c.706G>T
ENST00000643439.1:c.*1373G>T	ENSP00000495849.1:n.*1373G>T
ENST00000643479.1:n.1819G>T
ENST00000643516.1:c.1142G>T
ENST00000644218.1:c.1444G>T	ENSP00000493574.1:p.Val482Leu
ENST00000644683.1:c.*1086G>T	ENSP00000494085.1:n.*1086G>T
ENST00000644810.1:c.1354G>T	ENSP00000495895.1:p.Val452Leu
ENST00000644831.1:n.1809G>T
ENST00000644933.1:c.*499G>T	ENSP00000496133.1:n.*499G>T
ENST00000645285.1:c.*499G>T	ENSP00000495058.1:n.*499G>T
ENST00000645331.1:n.2838G>T
ENST00000645620.1:c.904G>T	ENSP00000493657.1:p.Val302Leu
ENST00000646691.1:n.1520G>T
ENST00000646777.1:n.1966G>T
ENST00000647016.1:n.2113G>T
ENST00000647152.1:c.904G>T	ENSP00000495893.1:p.Val302Leu
ENST00000647209.1:c.*1502G>T	ENSP00000495558.1:n.*1502G>T
ENST00000647346.1:n.2653G>T
ENST00000299427.10:c.1633G>T	ENSP00000299427.6:p.Val545Leu
ENST00000533371.5:c.904G>T	ENSP00000437066.1:p.Val302Leu
ENST00000611494.4:c.1633G>T	ENSP00000484546.1:p.Val545Leu
NM_000391.3:c.1633G>T	NP_000382.3:p.Val545Leu
NM_000391.4:c.1633G>T MANE Select	NP_000382.3:p.Val545Leu