Canonical Allele Identifier: CA346397468

Gene: IFT172

Linked Data

• MyVariant Identifiers: chr2:g.27703005A>T (hg19) ; chr2:g.27480138A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27480138A>T , CM000664.2:g.27480138A>T	GRCh38
NC_000002.11:g.27703005A>T , CM000664.1:g.27703005A>T	GRCh37
NC_000002.10:g.27556509A>T	NCBI36
NG_034068.1:g.14674T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260570.8:c.797T>A MANE Select	ENSP00000260570.3:p.Phe266Tyr
ENST00000476264.7:n.1086T>A
ENST00000674701.1:c.797T>A	ENSP00000502275.1:p.Phe266Tyr
ENST00000674824.1:c.734T>A	ENSP00000501824.1:p.Phe245Tyr
ENST00000674932.1:c.*460T>A	ENSP00000501967.1:n.*460T>A
ENST00000675410.1:c.116T>A	ENSP00000502030.1:p.Phe39Tyr
ENST00000675618.1:n.877T>A
ENST00000675690.1:c.797T>A	ENSP00000502283.1:p.Phe266Tyr
ENST00000675728.1:c.734T>A	ENSP00000501700.1:p.Phe245Tyr
ENST00000675729.1:c.797T>A	ENSP00000502319.1:p.Phe266Tyr
ENST00000675963.1:c.*495T>A	ENSP00000502708.1:n.*495T>A
ENST00000676119.1:c.*87T>A	ENSP00000501701.1:n.*87T>A
ENST00000676300.1:n.883T>A
ENST00000260570.7:c.797T>A	ENSP00000260570.3:p.Phe266Tyr
ENST00000359466.10:c.797T>A	ENSP00000352443.6:p.Phe266Tyr
ENST00000416524.2:c.734T>A	ENSP00000407408.2:p.Phe245Tyr
ENST00000476264.6:n.743T>A
ENST00000507184.5:n.929T>A
ENST00000511842.5:n.822T>A
NM_015662.2:c.797T>A	NP_056477.1:p.Phe266Tyr
XM_005264254.1:c.797T>A	XP_005264311.1:p.Phe266Tyr
XM_006711986.2:c.734T>A	XP_006712049.1:p.Phe245Tyr
XM_006711987.1:c.797T>A	XP_006712050.1:p.Phe266Tyr
XM_011532757.1:c.116T>A	XP_011531059.1:p.Phe39Tyr
XM_011532758.1:c.797T>A	XP_011531060.1:p.Phe266Tyr
XM_006711986.3:c.734T>A	XP_006712049.1:p.Phe245Tyr
XM_011532757.2:c.116T>A	XP_011531059.1:p.Phe39Tyr
XM_017003790.1:c.734T>A	XP_016859279.1:p.Phe245Tyr
XM_017003791.1:c.116T>A	XP_016859280.1:p.Phe39Tyr
XM_017003792.1:c.797T>A	XP_016859281.1:p.Phe266Tyr
XM_017003793.1:c.-654T>A	XP_016859282.1:n.-654T>A
XM_017003794.1:c.-654T>A	XP_016859283.1:n.-654T>A
XM_017003795.1:c.-1026T>A	XP_016859284.1:n.-1026T>A
XR_001738698.1:n.852T>A
NM_015662.3:c.797T>A MANE Select	NP_056477.1:p.Phe266Tyr