Canonical Allele Identifier: CA7313966
Gene: TRIP11 HGNC NCBI
MyVariant.info:
GRCh38 chr14:g.92011005G>A
GRCh37 chr14:g.92477349G>A
Revel Score:
ENST00000267622 (MANE Select) 0.079
gnomAD v2:
14:92477349 G / A
gnomAD v3:
14:92011005 G / A
gnomAD v4:
chr14-92011005-G-A
Joint Max Group AF 0.00000553 (AMR)
Exomes Max Group AF 0.00000741 (AMR)
ClinVar RCV:
RCV003051292
ClinVar Variation:
2143019
dbSNP:
766923679
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.92011005G>A , CM000676.2:g.92011005G>A GRCh38
NC_000014.8:g.92477349G>A , CM000676.1:g.92477349G>A GRCh37
NC_000014.7:g.91547102G>A NCBI36
NG_016970.1:g.34055C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000267622.8:c.1295C>T MANE Select ENSP00000267622.4:p.Ser432Leu
ENST00000554357.5:c.460+750C>T
NM_004239.3:c.1295C>T NP_004230.2:p.Ser432Leu
XM_005268214.2:c.-12-3153C>T XP_005268271.1:n.-12-3153C>T
XM_005268215.2:c.1295C>T XP_005268272.1:p.Ser432Leu
XM_006720321.2:c.1292C>T XP_006720384.1:p.Ser431Leu
XM_011537361.1:c.1295C>T XP_011535663.1:p.Ser432Leu
XR_943560.1:n.1750C>T
NM_001321851.1:c.1292C>T NP_001308780.1:p.Ser431Leu
NM_004239.4:c.1295C>T MANE Select NP_004230.2:p.Ser432Leu
XM_017021787.2:c.590C>T XP_016877276.1:p.Ser197Leu
XM_017021788.2:c.-12-3153C>T XP_016877277.1:n.-12-3153C>T
XR_001750598.2:n.1744C>T
XR_943560.2:n.1744C>T
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