Canonical Allele Identifier: CA346417265

Gene: IFT172

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27447843C>T , CM000664.2:g.27447843C>T	GRCh38
NC_000002.11:g.27670710C>T , CM000664.1:g.27670710C>T	GRCh37
NC_000002.10:g.27524214C>T	NCBI36
NG_034068.1:g.46969G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_015662.3:c.4508G>A MANE Select	NP_056477.1:p.Trp1503Ter
ENST00000260570.8:c.4508G>A MANE Select	ENSP00000260570.3:p.Trp1503Ter
NM_015662.2:c.4508G>A	NP_056477.1:p.Trp1503Ter
ENST00000260570.7:c.4508G>A	ENSP00000260570.3:p.Trp1503Ter
ENST00000420854.1:c.80G>A	ENSP00000398633.1:p.Trp27Ter
ENST00000507184.5:n.4789G>A
ENST00000509128.5:c.903G>A
ENST00000674594.1:n.1120G>A
ENST00000674701.1:c.*4021G>A	ENSP00000502275.1:n.*4021G>A
ENST00000674824.1:c.*2956G>A	ENSP00000501824.1:n.*2956G>A
ENST00000674932.1:c.*4954G>A	ENSP00000501967.1:n.*4954G>A
ENST00000675410.1:c.*2497G>A	ENSP00000502030.1:n.*2497G>A
ENST00000675690.1:c.4442G>A	ENSP00000502283.1:p.Trp1481Ter
ENST00000676119.1:c.*3734G>A	ENSP00000501701.1:n.*3734G>A
XM_005264254.1:c.4442G>A	XP_005264311.1:p.Trp1481Ter
XM_006711986.2:c.4445G>A	XP_006712049.1:p.Trp1482Ter
XM_006711986.3:c.4445G>A	XP_006712049.1:p.Trp1482Ter
XM_006711987.1:c.4508G>A	XP_006712050.1:p.Trp1503Ter
XM_011532757.1:c.3827G>A	XP_011531059.1:p.Trp1276Ter
XM_011532757.2:c.3827G>A	XP_011531059.1:p.Trp1276Ter
XM_011532759.1:c.2948G>A	XP_011531061.1:p.Trp983Ter
XM_011532759.2:c.2948G>A	XP_011531061.1:p.Trp983Ter
XM_011532760.1:c.2573G>A	XP_011531062.1:p.Trp858Ter
XM_011532760.2:c.2573G>A	XP_011531062.1:p.Trp858Ter
XM_017003790.1:c.4379G>A	XP_016859279.1:p.Trp1460Ter
XM_017003791.1:c.3827G>A	XP_016859280.1:p.Trp1276Ter
XM_017003793.1:c.2645G>A	XP_016859282.1:p.Trp882Ter
XM_017003794.1:c.2645G>A	XP_016859283.1:p.Trp882Ter
XM_017003795.1:c.2441G>A	XP_016859284.1:p.Trp814Ter