Canonical Allele Identifier: CA1579358
Community Standard Title: NM_015662.3(IFT172):c.5104C>T (p.Arg1702Trp)
Gene: IFT172 HGNC NCBI
KRTCAP3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27445070G>A , CM000664.2:g.27445070G>A GRCh38
NC_000002.11:g.27667937G>A , CM000664.1:g.27667937G>A GRCh37
NC_000002.10:g.27521441G>A NCBI36
NG_034068.1:g.49742C>T

Transcript Alleles

HGVS Amino-acid Change
NM_015662.3:c.5104C>T (IFT172) MANE Select NP_056477.1:p.Arg1702Trp
ENST00000260570.8:c.5104C>T (IFT172) MANE Select ENSP00000260570.3:p.Arg1702Trp
NM_001168364.1:c.*5+1009G>A (KRTCAP3) NP_001161836.1:n.*5+1009G>A
NM_001168364.2:c.*5+1009G>A (KRTCAP3) NP_001161836.1:n.*5+1009G>A
NM_015662.2:c.5104C>T (IFT172) NP_056477.1:p.Arg1702Trp
ENST00000260570.7:c.5104C>T (IFT172) ENSP00000260570.3:p.Arg1702Trp
ENST00000452499.1:c.194+1009G>A (KRTCAP3) ENSP00000388115.1:n.194+1009G>A
ENST00000494163.1:n.557C>T (IFT172)
ENST00000507184.5:n.5385C>T (IFT172)
ENST00000509128.5:c.1522C>T (IFT172)
ENST00000543753.5:c.*5+1009G>A (KRTCAP3) ENSP00000442400.1:n.*5+1009G>A
ENST00000674824.1:c.*3552C>T (IFT172) ENSP00000501824.1:n.*3552C>T
ENST00000674932.1:c.*5550C>T (IFT172) ENSP00000501967.1:n.*5550C>T
ENST00000675410.1:c.*3093C>T (IFT172) ENSP00000502030.1:n.*3093C>T
ENST00000675690.1:c.5038C>T (IFT172) ENSP00000502283.1:p.Arg1680Trp
ENST00000676119.1:c.*4330C>T (IFT172) ENSP00000501701.1:n.*4330C>T
XM_005264254.1:c.5038C>T (IFT172) XP_005264311.1:p.Arg1680Trp
XM_006711986.2:c.5041C>T (IFT172) XP_006712049.1:p.Arg1681Trp
XM_006711986.3:c.5041C>T (IFT172) XP_006712049.1:p.Arg1681Trp
XM_006711987.1:c.5005C>T (IFT172) XP_006712050.1:p.Arg1669Trp
XM_011532757.1:c.4423C>T (IFT172) XP_011531059.1:p.Arg1475Trp
XM_011532757.2:c.4423C>T (IFT172) XP_011531059.1:p.Arg1475Trp
XM_011532759.1:c.3544C>T (IFT172) XP_011531061.1:p.Arg1182Trp
XM_011532759.2:c.3544C>T (IFT172) XP_011531061.1:p.Arg1182Trp
XM_011532760.1:c.3169C>T (IFT172) XP_011531062.1:p.Arg1057Trp
XM_011532760.2:c.3169C>T (IFT172) XP_011531062.1:p.Arg1057Trp
XM_017003790.1:c.4975C>T (IFT172) XP_016859279.1:p.Arg1659Trp
XM_017003791.1:c.4423C>T (IFT172) XP_016859280.1:p.Arg1475Trp
XM_017003793.1:c.3241C>T (IFT172) XP_016859282.1:p.Arg1081Trp
XM_017003794.1:c.3241C>T (IFT172) XP_016859283.1:p.Arg1081Trp
XM_017003795.1:c.3037C>T (IFT172) XP_016859284.1:p.Arg1013Trp