Canonical Allele Identifier: CA390665104
Community Standard Title: NM_004239.4(TRIP11):c.588+2T>C
Gene: TRIP11 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.92021554A>G , CM000676.2:g.92021554A>G GRCh38
NC_000014.8:g.92487898A>G , CM000676.1:g.92487898A>G GRCh37
NC_000014.7:g.91557651A>G NCBI36
NG_016970.1:g.23506T>C

Transcript Alleles

HGVS Amino-acid Change
NM_004239.4:c.588+2T>C MANE Select NP_004230.2:n.588+2T>C
ENST00000267622.8:c.588+2T>C MANE Select ENSP00000267622.4:n.588+2T>C
NM_001321851.1:c.585+2T>C NP_001308780.1:n.585+2T>C
NM_004239.3:c.588+2T>C NP_004230.2:n.588+2T>C
ENST00000555516.6:c.105+2T>C ENSP00000451944.1:n.105+2T>C
XM_005268215.2:c.588+2T>C XP_005268272.1:n.588+2T>C
XM_006720321.2:c.585+2T>C XP_006720384.1:n.585+2T>C
XM_011537361.1:c.588+2T>C XP_011535663.1:n.588+2T>C
XM_017021787.2:c.-159+2T>C XP_016877276.1:n.-159+2T>C
XM_017021788.2:c.-611+2T>C XP_016877277.1:n.-611+2T>C
XR_001750598.2:n.1037+2T>C
XR_943560.1:n.1043+2T>C
XR_943560.2:n.1037+2T>C