Canonical Allele Identifier: CA7313114
Gene: TRIP11 HGNC NCBI
MyVariant.info:
GRCh38 chr14:g.91974608G>T
GRCh37 chr14:g.92440952G>T
gnomAD v2:
14:92440952 G / T
gnomAD v3:
14:91974608 G / T
gnomAD v4:
chr14-91974608-G-T
Joint Max Group AF 0.00007264 (NFE)
Genomes Max Group AF 0.00001171 (NFE)
Exomes Max Group AF 0.00007453 (NFE)
ClinVar RCV:
RCV000358083
RCV002059094
ClinVar Variation:
281931
dbSNP:
561150244
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.91974608G>T , CM000676.2:g.91974608G>T GRCh38
NC_000014.8:g.92440952G>T , CM000676.1:g.92440952G>T GRCh37
NC_000014.7:g.91510705G>T NCBI36
NG_016970.1:g.70452C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000267622.8:c.5574+19C>A MANE Select ENSP00000267622.4:n.5574+19C>A
ENST00000554357.5:c.4720+19C>A
NM_004239.3:c.5574+19C>A NP_004230.2:n.5574+19C>A
XM_005268214.2:c.4248+19C>A XP_005268271.1:n.4248+19C>A
XM_005268215.2:c.2544+19C>A XP_005268272.1:n.2544+19C>A
XM_006720321.2:c.5571+19C>A XP_006720384.1:n.5571+19C>A
NM_001321851.1:c.5571+19C>A NP_001308780.1:n.5571+19C>A
NM_004239.4:c.5574+19C>A MANE Select NP_004230.2:n.5574+19C>A
XM_017021787.2:c.4869+19C>A XP_016877276.1:n.4869+19C>A
XM_017021788.2:c.4248+19C>A XP_016877277.1:n.4248+19C>A
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