Canonical Allele Identifier: CA396396088

Gene: THAP11 CENPT

Linked Data

• ClinVar Variation Id: 393304
• ClinVar RCV Id: RCV000498990 ; RCV002522728
• dbSNP Id: rs188675529
• MyVariant Identifiers: chr16:g.67876697C>G (hg19) ; chr16:g.67842794C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67842794C>G , CM000678.2:g.67842794C>G	GRCh38
NC_000016.9:g.67876697C>G , CM000678.1:g.67876697C>G	GRCh37
NC_000016.8:g.66434198C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303596.3:c.240C>G (THAP11) MANE Select	ENSP00000304689.1:p.Phe80Leu
ENST00000562787.6:c.-492+4607G>C (CENPT) MANE Select	ENSP00000457810.1:n.-492+4607G>C
ENST00000303596.2:c.240C>G (THAP11)	ENSP00000304689.1:p.Phe80Leu
ENST00000561593.5:c.-366+4786G>C (CENPT)	ENSP00000454481.1:n.-366+4786G>C
ENST00000562787.5:c.-492+4607G>C (CENPT)	ENSP00000457810.1:n.-492+4607G>C
ENST00000564144.5:n.348+164G>C (CENPT)
ENST00000564346.5:n.110+205G>C (CENPT)
ENST00000565114.5:c.-371+4786G>C (CENPT)	ENSP00000455638.1:n.-371+4786G>C
ENST00000565132.5:n.52+3978G>C (CENPT)
ENST00000565385.5:n.172+164G>C (CENPT)
ENST00000567482.5:n.260+237G>C (CENPT)
ENST00000567985.5:c.-371+164G>C (CENPT)	ENSP00000460542.1:n.-371+164G>C
ENST00000568652.5:n.173+4786G>C (CENPT)
ENST00000568765.5:n.232+4786G>C (CENPT)
ENST00000569019.5:n.339+205G>C (CENPT)
ENST00000569094.5:n.176+4786G>C (CENPT)
NM_020457.2:c.240C>G (THAP11)	NP_065190.2:p.Phe80Leu
NM_025082.3:c.-492+4607G>C (CENPT)	NP_079358.3:n.-492+4607G>C
NM_025082.4:c.-492+4607G>C (CENPT) MANE Select	NP_079358.3:n.-492+4607G>C
NM_020457.3:c.240C>G (THAP11) MANE Select	NP_065190.2:p.Phe80Leu