Canonical Allele Identifier: CA346392657
Community Standard Title: NM_015662.3(IFT172):c.1411+2T>C
Gene: IFT172 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27476639A>G , CM000664.2:g.27476639A>G GRCh38
NC_000002.11:g.27699506A>G , CM000664.1:g.27699506A>G GRCh37
NC_000002.10:g.27553010A>G NCBI36
NG_034068.1:g.18173T>C

Transcript Alleles

HGVS Amino-acid Change
NM_015662.3:c.1411+2T>C MANE Select NP_056477.1:n.1411+2T>C
ENST00000260570.8:c.1411+2T>C MANE Select ENSP00000260570.3:n.1411+2T>C
NM_015662.2:c.1411+2T>C NP_056477.1:n.1411+2T>C
ENST00000260570.7:c.1411+2T>C ENSP00000260570.3:n.1411+2T>C
ENST00000359466.10:c.1411+2T>C ENSP00000352443.6:n.1411+2T>C
ENST00000416524.2:c.1348+2T>C ENSP00000407408.2:n.1348+2T>C
ENST00000476264.6:n.1847+2T>C
ENST00000476264.7:n.2192T>C
ENST00000507184.5:n.1543+2T>C
ENST00000511842.5:n.1436+2T>C
ENST00000674701.1:c.1411+2T>C ENSP00000502275.1:n.1411+2T>C
ENST00000674824.1:c.1348+2T>C ENSP00000501824.1:n.1348+2T>C
ENST00000674932.1:c.*1074+2T>C ENSP00000501967.1:n.*1074+2T>C
ENST00000675410.1:c.730+2T>C ENSP00000502030.1:n.730+2T>C
ENST00000675618.1:n.1981+2T>C
ENST00000675690.1:c.1411+2T>C ENSP00000502283.1:n.1411+2T>C
ENST00000675728.1:c.1348+2T>C ENSP00000501700.1:n.1348+2T>C
ENST00000675729.1:c.1325+578T>C ENSP00000502319.1:n.1325+578T>C
ENST00000675963.1:c.*1109+2T>C ENSP00000502708.1:n.*1109+2T>C
ENST00000676119.1:c.*701+2T>C ENSP00000501701.1:n.*701+2T>C
ENST00000676300.1:n.2227T>C
XM_005264254.1:c.1411+2T>C XP_005264311.1:n.1411+2T>C
XM_006711986.2:c.1348+2T>C XP_006712049.1:n.1348+2T>C
XM_006711986.3:c.1348+2T>C XP_006712049.1:n.1348+2T>C
XM_006711987.1:c.1411+2T>C XP_006712050.1:n.1411+2T>C
XM_011532757.1:c.730+2T>C XP_011531059.1:n.730+2T>C
XM_011532757.2:c.730+2T>C XP_011531059.1:n.730+2T>C
XM_011532758.1:c.1411+2T>C XP_011531060.1:n.1411+2T>C
XM_017003790.1:c.1348+2T>C XP_016859279.1:n.1348+2T>C
XM_017003791.1:c.730+2T>C XP_016859280.1:n.730+2T>C
XM_017003792.1:c.1411+2T>C XP_016859281.1:n.1411+2T>C
XM_017003793.1:c.-40+2T>C XP_016859282.1:n.-40+2T>C
XM_017003794.1:c.-40+2T>C XP_016859283.1:n.-40+2T>C
XM_017003795.1:c.-412+2T>C XP_016859284.1:n.-412+2T>C
XR_001738698.1:n.1466+2T>C