Canonical Allele Identifier: CA7313969

Gene: TRIP11

Linked Data

• ClinVar Variation Id: 314970
• ClinVar RCV Id: RCV000406125 ; RCV000593586 ; RCV002278417
• dbSNP Id: rs34761938
• ExAC: 14:92477364 A / G
• gnomAD v2: 14-92477364-A-G
• gnomAD v3: 14-92011020-A-G
• gnomAD v4: 14-92011020-A-G
• MyVariant Identifiers: chr14:g.92477364A>G (hg19) ; chr14:g.92011020A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.92011020A>G , CM000676.2:g.92011020A>G	GRCh38
NC_000014.8:g.92477364A>G , CM000676.1:g.92477364A>G	GRCh37
NC_000014.7:g.91547117A>G	NCBI36
NG_016970.1:g.34040T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267622.8:c.1280T>C MANE Select	ENSP00000267622.4:p.Leu427Ser
ENST00000554357.5:c.460+735T>C
NM_004239.3:c.1280T>C	NP_004230.2:p.Leu427Ser
XM_005268214.2:c.-12-3168T>C	XP_005268271.1:n.-12-3168T>C
XM_005268215.2:c.1280T>C	XP_005268272.1:p.Leu427Ser
XM_006720321.2:c.1277T>C	XP_006720384.1:p.Leu426Ser
XM_011537361.1:c.1280T>C	XP_011535663.1:p.Leu427Ser
XR_943560.1:n.1735T>C
NM_001321851.1:c.1277T>C	NP_001308780.1:p.Leu426Ser
NM_004239.4:c.1280T>C MANE Select	NP_004230.2:p.Leu427Ser
XM_017021787.2:c.575T>C	XP_016877276.1:p.Leu192Ser
XM_017021788.2:c.-12-3168T>C	XP_016877277.1:n.-12-3168T>C
XR_001750598.2:n.1729T>C
XR_943560.2:n.1729T>C