Canonical Allele Identifier: CA425412157
Community Standard Title: NM_015662.3(IFT172):c.5050C>T (p.Leu1684=)
Gene: IFT172 HGNC NCBI
KRTCAP3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27445314G>A , CM000664.2:g.27445314G>A GRCh38
NC_000002.11:g.27668181G>A , CM000664.1:g.27668181G>A GRCh37
NC_000002.10:g.27521685G>A NCBI36
NG_034068.1:g.49498C>T

Transcript Alleles

HGVS Amino-acid Change
NM_015662.3:c.5050C>T (IFT172) MANE Select NP_056477.1:p.Leu1684=
ENST00000260570.8:c.5050C>T (IFT172) MANE Select ENSP00000260570.3:p.Leu1684=
NM_001168364.1:c.*6-987G>A (KRTCAP3) NP_001161836.1:n.*6-987G>A
NM_001168364.2:c.*6-987G>A (KRTCAP3) NP_001161836.1:n.*6-987G>A
NM_015662.2:c.5050C>T (IFT172) NP_056477.1:p.Leu1684=
ENST00000260570.7:c.5050C>T (IFT172) ENSP00000260570.3:p.Leu1684=
ENST00000452499.1:c.195-987G>A (KRTCAP3) ENSP00000388115.1:n.195-987G>A
ENST00000479419.1:n.413C>T (IFT172)
ENST00000494163.1:n.503C>T (IFT172)
ENST00000507184.5:n.5331C>T (IFT172)
ENST00000509128.5:c.1468C>T (IFT172)
ENST00000543753.5:c.*6-987G>A (KRTCAP3) ENSP00000442400.1:n.*6-987G>A
ENST00000674594.1:n.1662C>T (IFT172)
ENST00000674701.1:c.*4563C>T (IFT172) ENSP00000502275.1:n.*4563C>T
ENST00000674824.1:c.*3498C>T (IFT172) ENSP00000501824.1:n.*3498C>T
ENST00000674932.1:c.*5496C>T (IFT172) ENSP00000501967.1:n.*5496C>T
ENST00000675410.1:c.*3039C>T (IFT172) ENSP00000502030.1:n.*3039C>T
ENST00000675690.1:c.4984C>T (IFT172) ENSP00000502283.1:p.Leu1662=
ENST00000676119.1:c.*4276C>T (IFT172) ENSP00000501701.1:n.*4276C>T
XM_005264254.1:c.4984C>T (IFT172) XP_005264311.1:p.Leu1662=
XM_006711986.2:c.4987C>T (IFT172) XP_006712049.1:p.Leu1663=
XM_006711986.3:c.4987C>T (IFT172) XP_006712049.1:p.Leu1663=
XM_006711987.1:c.4951C>T (IFT172) XP_006712050.1:p.Leu1651=
XM_011532757.1:c.4369C>T (IFT172) XP_011531059.1:p.Leu1457=
XM_011532757.2:c.4369C>T (IFT172) XP_011531059.1:p.Leu1457=
XM_011532759.1:c.3490C>T (IFT172) XP_011531061.1:p.Leu1164=
XM_011532759.2:c.3490C>T (IFT172) XP_011531061.1:p.Leu1164=
XM_011532760.1:c.3115C>T (IFT172) XP_011531062.1:p.Leu1039=
XM_011532760.2:c.3115C>T (IFT172) XP_011531062.1:p.Leu1039=
XM_017003790.1:c.4921C>T (IFT172) XP_016859279.1:p.Leu1641=
XM_017003791.1:c.4369C>T (IFT172) XP_016859280.1:p.Leu1457=
XM_017003793.1:c.3187C>T (IFT172) XP_016859282.1:p.Leu1063=
XM_017003794.1:c.3187C>T (IFT172) XP_016859283.1:p.Leu1063=
XM_017003795.1:c.2983C>T (IFT172) XP_016859284.1:p.Leu995=