Canonical Allele Identifier: CA1579518

Gene: IFT172 KRTCAP3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27446342G>A , CM000664.2:g.27446342G>A	GRCh38
NC_000002.11:g.27669209G>A , CM000664.1:g.27669209G>A	GRCh37
NC_000002.10:g.27522713G>A	NCBI36
NG_034068.1:g.48470C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_015662.3:c.4673C>T (IFT172) MANE Select	NP_056477.1:p.Ala1558Val
ENST00000260570.8:c.4673C>T (IFT172) MANE Select	ENSP00000260570.3:p.Ala1558Val
NM_001168364.1:c.*47G>A (KRTCAP3)	NP_001161836.1:n.*47G>A
NM_001168364.2:c.*47G>A (KRTCAP3)	NP_001161836.1:n.*47G>A
NM_015662.2:c.4673C>T (IFT172)	NP_056477.1:p.Ala1558Val
ENST00000260570.7:c.4673C>T (IFT172)	ENSP00000260570.3:p.Ala1558Val
ENST00000420854.1:c.245C>T (IFT172)	ENSP00000398633.1:p.Ala82Val
ENST00000452499.1:c.236G>A (KRTCAP3)	ENSP00000388115.1:n.236G>A
ENST00000480892.1:n.76C>T (IFT172)
ENST00000507184.5:n.4954C>T (IFT172)
ENST00000509128.5:c.1091C>T (IFT172)
ENST00000543753.5:c.*47G>A (KRTCAP3)	ENSP00000442400.1:n.*47G>A
ENST00000674594.1:n.1285C>T (IFT172)
ENST00000674701.1:c.*4186C>T (IFT172)	ENSP00000502275.1:n.*4186C>T
ENST00000674824.1:c.*3121C>T (IFT172)	ENSP00000501824.1:n.*3121C>T
ENST00000674932.1:c.*5119C>T (IFT172)	ENSP00000501967.1:n.*5119C>T
ENST00000675410.1:c.*2662C>T (IFT172)	ENSP00000502030.1:n.*2662C>T
ENST00000675690.1:c.4607C>T (IFT172)	ENSP00000502283.1:p.Ala1536Val
ENST00000676119.1:c.*3899C>T (IFT172)	ENSP00000501701.1:n.*3899C>T
XM_005264254.1:c.4607C>T (IFT172)	XP_005264311.1:p.Ala1536Val
XM_006711986.2:c.4610C>T (IFT172)	XP_006712049.1:p.Ala1537Val
XM_006711986.3:c.4610C>T (IFT172)	XP_006712049.1:p.Ala1537Val
XM_006711987.1:c.4673C>T (IFT172)	XP_006712050.1:p.Ala1558Val
XM_011532757.1:c.3992C>T (IFT172)	XP_011531059.1:p.Ala1331Val
XM_011532757.2:c.3992C>T (IFT172)	XP_011531059.1:p.Ala1331Val
XM_011532759.1:c.3113C>T (IFT172)	XP_011531061.1:p.Ala1038Val
XM_011532759.2:c.3113C>T (IFT172)	XP_011531061.1:p.Ala1038Val
XM_011532760.1:c.2738C>T (IFT172)	XP_011531062.1:p.Ala913Val
XM_011532760.2:c.2738C>T (IFT172)	XP_011531062.1:p.Ala913Val
XM_017003790.1:c.4544C>T (IFT172)	XP_016859279.1:p.Ala1515Val
XM_017003791.1:c.3992C>T (IFT172)	XP_016859280.1:p.Ala1331Val
XM_017003793.1:c.2810C>T (IFT172)	XP_016859282.1:p.Ala937Val
XM_017003794.1:c.2810C>T (IFT172)	XP_016859283.1:p.Ala937Val
XM_017003795.1:c.2606C>T (IFT172)	XP_016859284.1:p.Ala869Val