Canonical Allele Identifier: CA10646621

Gene: TRIP11 ATXN3

Linked Data

• ClinVar Variation Id: 314988
• ClinVar RCV Id: RCV000337905
• dbSNP Id: rs886050912
• gnomAD v2: 14-92506296-T-C
• gnomAD v3: 14-92039952-T-C
• gnomAD v4: 14-92039952-T-C
• MyVariant Identifiers: chr14:g.92506296T>C (hg19) ; chr14:g.92039952T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.92039952T>C , CM000676.2:g.92039952T>C	GRCh38
NC_000014.8:g.92506296T>C , CM000676.1:g.92506296T>C	GRCh37
NC_000014.7:g.91576049T>C	NCBI36
NG_008198.2:g.71670A>G
NG_016970.1:g.5108A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267622.8:c.-267A>G (TRIP11) MANE Select	ENSP00000267622.4:n.-267A>G
ENST00000555105.1:n.66A>G (TRIP11)
ENST00000555516.6:c.-345+928A>G (TRIP11)	ENSP00000451944.1:n.-345+928A>G
ENST00000558190.5:c.*24368A>G (ATXN3)	ENSP00000478320.1:n.*24368A>G
NM_004239.3:c.-267A>G (TRIP11)	NP_004230.2:n.-267A>G
XM_005268215.2:c.-267A>G (TRIP11)	XP_005268272.1:n.-267A>G
XM_006720321.2:c.-267A>G (TRIP11)	XP_006720384.1:n.-267A>G
XM_011537361.1:c.-267A>G (TRIP11)	XP_011535663.1:n.-267A>G
XR_943560.1:n.189A>G (TRIP11)
NM_001321851.1:c.-267A>G (TRIP11)	NP_001308780.1:n.-267A>G
NM_004239.4:c.-267A>G (TRIP11) MANE Select	NP_004230.2:n.-267A>G
XM_017021787.2:c.-1013A>G (TRIP11)	XP_016877276.1:n.-1013A>G
XM_017021788.2:c.-1465A>G (TRIP11)	XP_016877277.1:n.-1465A>G
XR_001750598.2:n.183A>G (TRIP11)
XR_943560.2:n.183A>G (TRIP11)