Canonical Allele Identifier: CA7313606
Gene: TRIP11 HGNC NCBI

Linked Data

ClinVar Variation Id: 290765
dbSNP Id: rs41301481

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.92004372T>G , CM000676.2:g.92004372T>G GRCh38
NC_000014.8:g.92470716T>G , CM000676.1:g.92470716T>G GRCh37
NC_000014.7:g.91540469T>G NCBI36
NG_016970.1:g.40688A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000267622.8:c.3604A>C MANE Select ENSP00000267622.4:p.Asn1202His
ENST00000554357.5:c.2750A>C
NM_004239.3:c.3604A>C NP_004230.2:p.Asn1202His
XM_005268214.2:c.2278A>C XP_005268271.1:p.Asn760His
XM_005268215.2:c.1527+3268A>C XP_005268272.1:n.1527+3268A>C
XM_006720321.2:c.3601A>C XP_006720384.1:p.Asn1201His
XM_011537361.1:c.3604A>C XP_011535663.1:p.Asn1202His
XR_943560.1:n.4059A>C
NM_001321851.1:c.3601A>C NP_001308780.1:p.Asn1201His
NM_004239.4:c.3604A>C MANE Select NP_004230.2:p.Asn1202His
XM_017021787.2:c.2899A>C XP_016877276.1:p.Asn967His
XM_017021788.2:c.2278A>C XP_016877277.1:p.Asn760His
XR_001750598.2:n.4053A>C
XR_943560.2:n.4053A>C