Canonical Allele Identifier: CA1579509

Gene: IFT172 KRTCAP3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27446282T>C , CM000664.2:g.27446282T>C	GRCh38
NC_000002.11:g.27669149T>C , CM000664.1:g.27669149T>C	GRCh37
NC_000002.10:g.27522653T>C	NCBI36
NG_034068.1:g.48530A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_015662.3:c.4733A>G (IFT172) MANE Select	NP_056477.1:p.Tyr1578Cys
ENST00000260570.8:c.4733A>G (IFT172) MANE Select	ENSP00000260570.3:p.Tyr1578Cys
NM_001168364.1:c.*6-19T>C (KRTCAP3)	NP_001161836.1:n.*6-19T>C
NM_001168364.2:c.*6-19T>C (KRTCAP3)	NP_001161836.1:n.*6-19T>C
NM_015662.2:c.4733A>G (IFT172)	NP_056477.1:p.Tyr1578Cys
ENST00000260570.7:c.4733A>G (IFT172)	ENSP00000260570.3:p.Tyr1578Cys
ENST00000420854.1:c.305A>G (IFT172)	ENSP00000398633.1:p.Tyr102Cys
ENST00000452499.1:c.195-19T>C (KRTCAP3)	ENSP00000388115.1:n.195-19T>C
ENST00000480892.1:n.136A>G (IFT172)
ENST00000507184.5:n.5014A>G (IFT172)
ENST00000509128.5:c.1151A>G (IFT172)
ENST00000543753.5:c.*6-19T>C (KRTCAP3)	ENSP00000442400.1:n.*6-19T>C
ENST00000674594.1:n.1345A>G (IFT172)
ENST00000674701.1:c.*4246A>G (IFT172)	ENSP00000502275.1:n.*4246A>G
ENST00000674824.1:c.*3181A>G (IFT172)	ENSP00000501824.1:n.*3181A>G
ENST00000674932.1:c.*5179A>G (IFT172)	ENSP00000501967.1:n.*5179A>G
ENST00000675410.1:c.*2722A>G (IFT172)	ENSP00000502030.1:n.*2722A>G
ENST00000675690.1:c.4667A>G (IFT172)	ENSP00000502283.1:p.Tyr1556Cys
ENST00000676119.1:c.*3959A>G (IFT172)	ENSP00000501701.1:n.*3959A>G
XM_005264254.1:c.4667A>G (IFT172)	XP_005264311.1:p.Tyr1556Cys
XM_006711986.2:c.4670A>G (IFT172)	XP_006712049.1:p.Tyr1557Cys
XM_006711986.3:c.4670A>G (IFT172)	XP_006712049.1:p.Tyr1557Cys
XM_006711987.1:c.4733A>G (IFT172)	XP_006712050.1:p.Tyr1578Cys
XM_011532757.1:c.4052A>G (IFT172)	XP_011531059.1:p.Tyr1351Cys
XM_011532757.2:c.4052A>G (IFT172)	XP_011531059.1:p.Tyr1351Cys
XM_011532759.1:c.3173A>G (IFT172)	XP_011531061.1:p.Tyr1058Cys
XM_011532759.2:c.3173A>G (IFT172)	XP_011531061.1:p.Tyr1058Cys
XM_011532760.1:c.2798A>G (IFT172)	XP_011531062.1:p.Tyr933Cys
XM_011532760.2:c.2798A>G (IFT172)	XP_011531062.1:p.Tyr933Cys
XM_017003790.1:c.4604A>G (IFT172)	XP_016859279.1:p.Tyr1535Cys
XM_017003791.1:c.4052A>G (IFT172)	XP_016859280.1:p.Tyr1351Cys
XM_017003793.1:c.2870A>G (IFT172)	XP_016859282.1:p.Tyr957Cys
XM_017003794.1:c.2870A>G (IFT172)	XP_016859283.1:p.Tyr957Cys
XM_017003795.1:c.2666A>G (IFT172)	XP_016859284.1:p.Tyr889Cys