Canonical Allele Identifier: CA7313685

Gene: TRIP11

Linked Data

• ClinVar Variation Id: 314951
• ClinVar RCV Id: RCV000312673 ; RCV003165849 ; RCV003930349
• dbSNP Id: rs200739251
• ExAC: 14:92471220 G / A
• gnomAD v2: 14-92471220-G-A
• gnomAD v3: 14-92004876-G-A
• gnomAD v4: 14-92004876-G-A
• MyVariant Identifiers: chr14:g.92471220G>A (hg19) ; chr14:g.92004876G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.92004876G>A , CM000676.2:g.92004876G>A	GRCh38
NC_000014.8:g.92471220G>A , CM000676.1:g.92471220G>A	GRCh37
NC_000014.7:g.91540973G>A	NCBI36
NG_016970.1:g.40184C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267622.8:c.3100C>T MANE Select	ENSP00000267622.4:p.Leu1034Phe
ENST00000554357.5:c.2246C>T
NM_004239.3:c.3100C>T	NP_004230.2:p.Leu1034Phe
XM_005268214.2:c.1774C>T	XP_005268271.1:p.Leu592Phe
XM_005268215.2:c.1527+2764C>T	XP_005268272.1:n.1527+2764C>T
XM_006720321.2:c.3097C>T	XP_006720384.1:p.Leu1033Phe
XM_011537361.1:c.3100C>T	XP_011535663.1:p.Leu1034Phe
XR_943560.1:n.3555C>T
NM_001321851.1:c.3097C>T	NP_001308780.1:p.Leu1033Phe
NM_004239.4:c.3100C>T MANE Select	NP_004230.2:p.Leu1034Phe
XM_017021787.2:c.2395C>T	XP_016877276.1:p.Leu799Phe
XM_017021788.2:c.1774C>T	XP_016877277.1:p.Leu592Phe
XR_001750598.2:n.3549C>T
XR_943560.2:n.3549C>T