Canonical Allele Identifier: CA7313124

Gene: TRIP11

Linked Data

• ClinVar Variation Id: 288207
• ClinVar RCV Id: RCV000726133 ; RCV001088960 ; RCV002278312 ; RCV003910010
• dbSNP Id: rs141259390
• ExAC: 14:92441008 G / A
• gnomAD v2: 14-92441008-G-A
• gnomAD v3: 14-91974664-G-A
• gnomAD v4: 14-91974664-G-A
• COSMIC: COSM4148304
• MyVariant Identifiers: chr14:g.92441008G>A (hg19) ; chr14:g.91974664G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91974664G>A , CM000676.2:g.91974664G>A	GRCh38
NC_000014.8:g.92441008G>A , CM000676.1:g.92441008G>A	GRCh37
NC_000014.7:g.91510761G>A	NCBI36
NG_016970.1:g.70396C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267622.8:c.5537C>T MANE Select	ENSP00000267622.4:p.Thr1846Ile
ENST00000554357.5:c.4683C>T
NM_004239.3:c.5537C>T	NP_004230.2:p.Thr1846Ile
XM_005268214.2:c.4211C>T	XP_005268271.1:p.Thr1404Ile
XM_005268215.2:c.2507C>T	XP_005268272.1:p.Thr836Ile
XM_006720321.2:c.5534C>T	XP_006720384.1:p.Thr1845Ile
NM_001321851.1:c.5534C>T	NP_001308780.1:p.Thr1845Ile
NM_004239.4:c.5537C>T MANE Select	NP_004230.2:p.Thr1846Ile
XM_017021787.2:c.4832C>T	XP_016877276.1:p.Thr1611Ile
XM_017021788.2:c.4211C>T	XP_016877277.1:p.Thr1404Ile