Canonical Allele Identifier: CA1579441
Community Standard Title: NM_015662.3(IFT172):c.4868C>T (p.Thr1623Ile)
Gene: IFT172 HGNC NCBI
KRTCAP3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27445791G>A , CM000664.2:g.27445791G>A GRCh38
NC_000002.11:g.27668658G>A , CM000664.1:g.27668658G>A GRCh37
NC_000002.10:g.27522162G>A NCBI36
NG_034068.1:g.49021C>T

Transcript Alleles

HGVS Amino-acid Change
NM_015662.3:c.4868C>T (IFT172) MANE Select NP_056477.1:p.Thr1623Ile
ENST00000260570.8:c.4868C>T (IFT172) MANE Select ENSP00000260570.3:p.Thr1623Ile
NM_001168364.1:c.*6-510G>A (KRTCAP3) NP_001161836.1:n.*6-510G>A
NM_001168364.2:c.*6-510G>A (KRTCAP3) NP_001161836.1:n.*6-510G>A
NM_015662.2:c.4868C>T (IFT172) NP_056477.1:p.Thr1623Ile
ENST00000260570.7:c.4868C>T (IFT172) ENSP00000260570.3:p.Thr1623Ile
ENST00000420854.1:c.440C>T (IFT172) ENSP00000398633.1:p.Thr147Ile
ENST00000452499.1:c.195-510G>A (KRTCAP3) ENSP00000388115.1:n.195-510G>A
ENST00000479419.1:n.277+138C>T (IFT172)
ENST00000494163.1:n.321C>T (IFT172)
ENST00000507184.5:n.5149C>T (IFT172)
ENST00000509128.5:c.1286C>T (IFT172)
ENST00000543753.5:c.*6-510G>A (KRTCAP3) ENSP00000442400.1:n.*6-510G>A
ENST00000674594.1:n.1480C>T (IFT172)
ENST00000674701.1:c.*4381C>T (IFT172) ENSP00000502275.1:n.*4381C>T
ENST00000674824.1:c.*3316C>T (IFT172) ENSP00000501824.1:n.*3316C>T
ENST00000674932.1:c.*5314C>T (IFT172) ENSP00000501967.1:n.*5314C>T
ENST00000675410.1:c.*2857C>T (IFT172) ENSP00000502030.1:n.*2857C>T
ENST00000675690.1:c.4802C>T (IFT172) ENSP00000502283.1:p.Thr1601Ile
ENST00000676119.1:c.*4094C>T (IFT172) ENSP00000501701.1:n.*4094C>T
XM_005264254.1:c.4802C>T (IFT172) XP_005264311.1:p.Thr1601Ile
XM_006711986.2:c.4805C>T (IFT172) XP_006712049.1:p.Thr1602Ile
XM_006711986.3:c.4805C>T (IFT172) XP_006712049.1:p.Thr1602Ile
XM_006711987.1:c.4815+138C>T (IFT172) XP_006712050.1:n.4815+138C>T
XM_011532757.1:c.4187C>T (IFT172) XP_011531059.1:p.Thr1396Ile
XM_011532757.2:c.4187C>T (IFT172) XP_011531059.1:p.Thr1396Ile
XM_011532759.1:c.3308C>T (IFT172) XP_011531061.1:p.Thr1103Ile
XM_011532759.2:c.3308C>T (IFT172) XP_011531061.1:p.Thr1103Ile
XM_011532760.1:c.2933C>T (IFT172) XP_011531062.1:p.Thr978Ile
XM_011532760.2:c.2933C>T (IFT172) XP_011531062.1:p.Thr978Ile
XM_017003790.1:c.4739C>T (IFT172) XP_016859279.1:p.Thr1580Ile
XM_017003791.1:c.4187C>T (IFT172) XP_016859280.1:p.Thr1396Ile
XM_017003793.1:c.3005C>T (IFT172) XP_016859282.1:p.Thr1002Ile
XM_017003794.1:c.3005C>T (IFT172) XP_016859283.1:p.Thr1002Ile
XM_017003795.1:c.2801C>T (IFT172) XP_016859284.1:p.Thr934Ile