Canonical Allele Identifier: CA379472700

Gene: TPP1

Linked Data

• ClinVar Variation Id: 2437218
• ClinVar RCV Id: RCV003141138
• COSMIC: COSM1675801
• MyVariant Identifiers: chr11:g.6636493C>T (hg19) ; chr11:g.6615262C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615262C>T , CM000673.2:g.6615262C>T	GRCh38
NC_000011.9:g.6636493C>T , CM000673.1:g.6636493C>T	GRCh37
NC_000011.8:g.6593069C>T	NCBI36
NG_008653.1:g.9200G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682424.1:c.1220G>A	ENSP00000507321.1:p.Ser407Asn
ENST00000299427.12:c.1334G>A MANE Select	ENSP00000299427.6:p.Ser445Asn
ENST00000524611.2:n.194G>A
ENST00000524924.2:n.454G>A
ENST00000533371.6:c.605G>A	ENSP00000437066.1:p.Ser202Asn
ENST00000642892.1:c.605G>A	ENSP00000494165.1:p.Ser202Asn
ENST00000643342.1:c.407G>A
ENST00000643439.1:c.*1074G>A	ENSP00000495849.1:n.*1074G>A
ENST00000643479.1:n.1520G>A
ENST00000643516.1:c.843G>A
ENST00000644218.1:c.1145G>A	ENSP00000493574.1:p.Ser382Asn
ENST00000644683.1:c.*787G>A	ENSP00000494085.1:n.*787G>A
ENST00000644810.1:c.1055G>A	ENSP00000495895.1:p.Ser352Asn
ENST00000644831.1:n.1510G>A
ENST00000644933.1:c.*200G>A	ENSP00000496133.1:n.*200G>A
ENST00000645285.1:c.*200G>A	ENSP00000495058.1:n.*200G>A
ENST00000645331.1:n.2539G>A
ENST00000645620.1:c.605G>A	ENSP00000493657.1:p.Ser202Asn
ENST00000646691.1:n.1221G>A
ENST00000646777.1:n.1667G>A
ENST00000647016.1:n.1814G>A
ENST00000647152.1:c.605G>A	ENSP00000495893.1:p.Ser202Asn
ENST00000647209.1:c.*1203G>A	ENSP00000495558.1:n.*1203G>A
ENST00000647346.1:n.2354G>A
ENST00000299427.10:c.1334G>A	ENSP00000299427.6:p.Ser445Asn
ENST00000524611.1:n.212G>A
ENST00000524924.1:n.289G>A
ENST00000532191.1:n.387G>A
ENST00000533371.5:c.605G>A	ENSP00000437066.1:p.Ser202Asn
ENST00000611494.4:c.1334G>A	ENSP00000484546.1:p.Ser445Asn
NM_000391.3:c.1334G>A	NP_000382.3:p.Ser445Asn
NM_000391.4:c.1334G>A MANE Select	NP_000382.3:p.Ser445Asn