Canonical Allele Identifier: CA1579867

Gene: IFT172

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27453682G>A , CM000664.2:g.27453682G>A	GRCh38
NC_000002.11:g.27676549G>A , CM000664.1:g.27676549G>A	GRCh37
NC_000002.10:g.27530053G>A	NCBI36
NG_034068.1:g.41130C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_015662.3:c.3769C>T MANE Select	NP_056477.1:p.Leu1257=
ENST00000260570.8:c.3769C>T MANE Select	ENSP00000260570.3:p.Leu1257=
NM_015662.2:c.3769C>T	NP_056477.1:p.Leu1257=
ENST00000260570.7:c.3769C>T	ENSP00000260570.3:p.Leu1257=
ENST00000443889.1:c.374C>T
ENST00000450564.1:c.154-169C>T	ENSP00000399017.1:n.154-169C>T
ENST00000475909.1:n.87C>T
ENST00000507184.5:n.4050C>T
ENST00000509128.5:c.164C>T
ENST00000674701.1:c.*3282C>T	ENSP00000502275.1:n.*3282C>T
ENST00000674824.1:c.*2217C>T	ENSP00000501824.1:n.*2217C>T
ENST00000674932.1:c.*4215C>T	ENSP00000501967.1:n.*4215C>T
ENST00000675410.1:c.*1640C>T	ENSP00000502030.1:n.*1640C>T
ENST00000675690.1:c.3703C>T	ENSP00000502283.1:p.Leu1235=
ENST00000676119.1:c.*3059C>T	ENSP00000501701.1:n.*3059C>T
XM_005264254.1:c.3703C>T	XP_005264311.1:p.Leu1235=
XM_006711986.2:c.3706C>T	XP_006712049.1:p.Leu1236=
XM_006711986.3:c.3706C>T	XP_006712049.1:p.Leu1236=
XM_006711987.1:c.3769C>T	XP_006712050.1:p.Leu1257=
XM_011532757.1:c.3088C>T	XP_011531059.1:p.Leu1030=
XM_011532757.2:c.3088C>T	XP_011531059.1:p.Leu1030=
XM_011532758.1:c.3769C>T	XP_011531060.1:p.Leu1257=
XM_011532759.1:c.2209C>T	XP_011531061.1:p.Leu737=
XM_011532759.2:c.2209C>T	XP_011531061.1:p.Leu737=
XM_011532760.1:c.1834C>T	XP_011531062.1:p.Leu612=
XM_011532760.2:c.1834C>T	XP_011531062.1:p.Leu612=
XM_017003790.1:c.3640C>T	XP_016859279.1:p.Leu1214=
XM_017003791.1:c.3088C>T	XP_016859280.1:p.Leu1030=
XM_017003792.1:c.3712-169C>T	XP_016859281.1:n.3712-169C>T
XM_017003793.1:c.1906C>T	XP_016859282.1:p.Leu636=
XM_017003794.1:c.1906C>T	XP_016859283.1:p.Leu636=
XM_017003795.1:c.1702C>T	XP_016859284.1:p.Leu568=
XR_001738698.1:n.3767-169C>T