Canonical Allele Identifier: CA117563

Gene: TRIP11

Linked Data

• ClinVar Variation Id: 5511
• ClinVar RCV Id: RCV000005846 ; RCV000725982 ; RCV002276533
• dbSNP Id: rs139539448
• ExAC: 14:92472218 T / C
• gnomAD v2: 14-92472218-T-C
• gnomAD v3: 14-92005874-T-C
• gnomAD v4: 14-92005874-T-C
• MyVariant Identifiers: chr14:g.92472218T>C (hg19) ; chr14:g.92005874T>C (hg38)
• PubMed: PMID:20089971

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.92005874T>C , CM000676.2:g.92005874T>C	GRCh38
NC_000014.8:g.92472218T>C , CM000676.1:g.92472218T>C	GRCh37
NC_000014.7:g.91541971T>C	NCBI36
NG_016970.1:g.39186A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267622.8:c.2102A>G MANE Select	ENSP00000267622.4:p.Asn701Ser
ENST00000554357.5:c.1248A>G
NM_004239.3:c.2102A>G	NP_004230.2:p.Asn701Ser
XM_005268214.2:c.776A>G	XP_005268271.1:p.Asn259Ser
XM_005268215.2:c.1527+1766A>G	XP_005268272.1:n.1527+1766A>G
XM_006720321.2:c.2099A>G	XP_006720384.1:p.Asn700Ser
XM_011537361.1:c.2102A>G	XP_011535663.1:p.Asn701Ser
XR_943560.1:n.2557A>G
NM_001321851.1:c.2099A>G	NP_001308780.1:p.Asn700Ser
NM_004239.4:c.2102A>G MANE Select	NP_004230.2:p.Asn701Ser
XM_017021787.2:c.1397A>G	XP_016877276.1:p.Asn466Ser
XM_017021788.2:c.776A>G	XP_016877277.1:p.Asn259Ser
XR_001750598.2:n.2551A>G
XR_943560.2:n.2551A>G