Canonical Allele Identifier: CA379472579

Gene: TPP1

Linked Data

• dbSNP Id: rs1200146354
• gnomAD v2: 11-6636437-T-G
• gnomAD v4: 11-6615206-T-G
• MyVariant Identifiers: chr11:g.6636437T>G (hg19) ; chr11:g.6615206T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615206T>G , CM000673.2:g.6615206T>G	GRCh38
NC_000011.9:g.6636437T>G , CM000673.1:g.6636437T>G	GRCh37
NC_000011.8:g.6593013T>G	NCBI36
NG_008653.1:g.9256A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1276A>C	ENSP00000507321.1:p.Asn426His
ENST00000299427.12:c.1390A>C MANE Select	ENSP00000299427.6:p.Asn464His
ENST00000524611.2:n.250A>C
ENST00000524924.2:n.510A>C
ENST00000533371.6:c.661A>C	ENSP00000437066.1:p.Asn221His
ENST00000642892.1:c.661A>C	ENSP00000494165.1:p.Asn221His
ENST00000643342.1:c.463A>C
ENST00000643439.1:c.*1130A>C	ENSP00000495849.1:n.*1130A>C
ENST00000643479.1:n.1576A>C
ENST00000643516.1:c.899A>C
ENST00000644218.1:c.1201A>C	ENSP00000493574.1:p.Asn401His
ENST00000644683.1:c.*843A>C	ENSP00000494085.1:n.*843A>C
ENST00000644810.1:c.1111A>C	ENSP00000495895.1:p.Asn371His
ENST00000644831.1:n.1566A>C
ENST00000644933.1:c.*256A>C	ENSP00000496133.1:n.*256A>C
ENST00000645285.1:c.*256A>C	ENSP00000495058.1:n.*256A>C
ENST00000645331.1:n.2595A>C
ENST00000645620.1:c.661A>C	ENSP00000493657.1:p.Asn221His
ENST00000646691.1:n.1277A>C
ENST00000646777.1:n.1723A>C
ENST00000647016.1:n.1870A>C
ENST00000647152.1:c.661A>C	ENSP00000495893.1:p.Asn221His
ENST00000647209.1:c.*1259A>C	ENSP00000495558.1:n.*1259A>C
ENST00000647346.1:n.2410A>C
ENST00000299427.10:c.1390A>C	ENSP00000299427.6:p.Asn464His
ENST00000524611.1:n.268A>C
ENST00000533371.5:c.661A>C	ENSP00000437066.1:p.Asn221His
ENST00000611494.4:c.1390A>C	ENSP00000484546.1:p.Asn464His
NM_000391.3:c.1390A>C	NP_000382.3:p.Asn464His
NM_000391.4:c.1390A>C MANE Select	NP_000382.3:p.Asn464His