Canonical Allele Identifier: CA1580104

Gene: IFT172

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27457947A>T , CM000664.2:g.27457947A>T	GRCh38
NC_000002.11:g.27680814A>T , CM000664.1:g.27680814A>T	GRCh37
NC_000002.10:g.27534318A>T	NCBI36
NG_034068.1:g.36865T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_015662.3:c.3005T>A MANE Select	NP_056477.1:p.Leu1002His
ENST00000260570.8:c.3005T>A MANE Select	ENSP00000260570.3:p.Leu1002His
NM_015662.2:c.3005T>A	NP_056477.1:p.Leu1002His
ENST00000260570.7:c.3005T>A	ENSP00000260570.3:p.Leu1002His
ENST00000476693.1:n.463T>A
ENST00000507184.5:n.3286T>A
ENST00000674701.1:c.*2327T>A	ENSP00000502275.1:n.*2327T>A
ENST00000674824.1:c.*1020T>A	ENSP00000501824.1:n.*1020T>A
ENST00000674932.1:c.*3260T>A	ENSP00000501967.1:n.*3260T>A
ENST00000675410.1:c.*685T>A	ENSP00000502030.1:n.*685T>A
ENST00000675690.1:c.2939T>A	ENSP00000502283.1:p.Leu980His
ENST00000676119.1:c.*2295T>A	ENSP00000501701.1:n.*2295T>A
XM_005264254.1:c.2939T>A	XP_005264311.1:p.Leu980His
XM_006711986.2:c.2942T>A	XP_006712049.1:p.Leu981His
XM_006711986.3:c.2942T>A	XP_006712049.1:p.Leu981His
XM_006711987.1:c.3005T>A	XP_006712050.1:p.Leu1002His
XM_011532757.1:c.2324T>A	XP_011531059.1:p.Leu775His
XM_011532757.2:c.2324T>A	XP_011531059.1:p.Leu775His
XM_011532758.1:c.3005T>A	XP_011531060.1:p.Leu1002His
XM_011532759.1:c.1445T>A	XP_011531061.1:p.Leu482His
XM_011532759.2:c.1445T>A	XP_011531061.1:p.Leu482His
XM_011532760.1:c.1070T>A	XP_011531062.1:p.Leu357His
XM_011532760.2:c.1070T>A	XP_011531062.1:p.Leu357His
XM_017003790.1:c.2876T>A	XP_016859279.1:p.Leu959His
XM_017003791.1:c.2324T>A	XP_016859280.1:p.Leu775His
XM_017003792.1:c.3005T>A	XP_016859281.1:p.Leu1002His
XM_017003793.1:c.1142T>A	XP_016859282.1:p.Leu381His
XM_017003794.1:c.1142T>A	XP_016859283.1:p.Leu381His
XM_017003795.1:c.938T>A	XP_016859284.1:p.Leu313His
XR_001738698.1:n.3060T>A