Canonical Allele Identifier: CA425609056

Gene: IFT172

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27453428G>T , CM000664.2:g.27453428G>T	GRCh38
NC_000002.11:g.27676295G>T , CM000664.1:g.27676295G>T	GRCh37
NC_000002.10:g.27529799G>T	NCBI36
NG_034068.1:g.41384C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_015662.3:c.3907C>A MANE Select	NP_056477.1:p.Arg1303=
ENST00000260570.8:c.3907C>A MANE Select	ENSP00000260570.3:p.Arg1303=
NM_015662.2:c.3907C>A	NP_056477.1:p.Arg1303=
ENST00000260570.7:c.3907C>A	ENSP00000260570.3:p.Arg1303=
ENST00000443889.1:c.512C>A
ENST00000450564.1:c.239C>A	ENSP00000399017.1:p.Ala80Glu
ENST00000475909.1:n.225C>A
ENST00000507184.5:n.4188C>A
ENST00000509128.5:c.302C>A
ENST00000674701.1:c.*3420C>A	ENSP00000502275.1:n.*3420C>A
ENST00000674824.1:c.*2355C>A	ENSP00000501824.1:n.*2355C>A
ENST00000674932.1:c.*4353C>A	ENSP00000501967.1:n.*4353C>A
ENST00000675410.1:c.*1778C>A	ENSP00000502030.1:n.*1778C>A
ENST00000675690.1:c.3841C>A	ENSP00000502283.1:p.Arg1281=
ENST00000676119.1:c.*3197C>A	ENSP00000501701.1:n.*3197C>A
XM_005264254.1:c.3841C>A	XP_005264311.1:p.Arg1281=
XM_006711986.2:c.3844C>A	XP_006712049.1:p.Arg1282=
XM_006711986.3:c.3844C>A	XP_006712049.1:p.Arg1282=
XM_006711987.1:c.3907C>A	XP_006712050.1:p.Arg1303=
XM_011532757.1:c.3226C>A	XP_011531059.1:p.Arg1076=
XM_011532757.2:c.3226C>A	XP_011531059.1:p.Arg1076=
XM_011532758.1:c.3907C>A	XP_011531060.1:p.Arg1303=
XM_011532759.1:c.2347C>A	XP_011531061.1:p.Arg783=
XM_011532759.2:c.2347C>A	XP_011531061.1:p.Arg783=
XM_011532760.1:c.1972C>A	XP_011531062.1:p.Arg658=
XM_011532760.2:c.1972C>A	XP_011531062.1:p.Arg658=
XM_017003790.1:c.3778C>A	XP_016859279.1:p.Arg1260=
XM_017003791.1:c.3226C>A	XP_016859280.1:p.Arg1076=
XM_017003792.1:c.3797C>A	XP_016859281.1:p.Ala1266Glu
XM_017003793.1:c.2044C>A	XP_016859282.1:p.Arg682=
XM_017003794.1:c.2044C>A	XP_016859283.1:p.Arg682=
XM_017003795.1:c.1840C>A	XP_016859284.1:p.Arg614=
XR_001738698.1:n.3852C>A