Canonical Allele Identifier: CA7314014

Gene: TRIP11

Linked Data

• ClinVar Variation Id: 314971
• ClinVar RCV Id: RCV000312943
• dbSNP Id: rs371492052
• ExAC: 14:92480545 C / T
• gnomAD v2: 14-92480545-C-T
• gnomAD v3: 14-92014201-C-T
• gnomAD v4: 14-92014201-C-T
• MyVariant Identifiers: chr14:g.92480545C>T (hg19) ; chr14:g.92014201C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.92014201C>T , CM000676.2:g.92014201C>T	GRCh38
NC_000014.8:g.92480545C>T , CM000676.1:g.92480545C>T	GRCh37
NC_000014.7:g.91550298C>T	NCBI36
NG_016970.1:g.30859G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267622.8:c.1186+14G>A MANE Select	ENSP00000267622.4:n.1186+14G>A
ENST00000554357.5:c.419+14G>A
NM_004239.3:c.1186+14G>A	NP_004230.2:n.1186+14G>A
XM_005268214.2:c.-13+14G>A	XP_005268271.1:n.-13+14G>A
XM_005268215.2:c.1186+14G>A	XP_005268272.1:n.1186+14G>A
XM_006720321.2:c.1183+14G>A	XP_006720384.1:n.1183+14G>A
XM_011537361.1:c.1186+14G>A	XP_011535663.1:n.1186+14G>A
XR_943560.1:n.1641+14G>A
NM_001321851.1:c.1183+14G>A	NP_001308780.1:n.1183+14G>A
NM_004239.4:c.1186+14G>A MANE Select	NP_004230.2:n.1186+14G>A
XM_017021787.2:c.481+14G>A	XP_016877276.1:n.481+14G>A
XM_017021788.2:c.-13+14G>A	XP_016877277.1:n.-13+14G>A
XR_001750598.2:n.1635+14G>A
XR_943560.2:n.1635+14G>A