Canonical Allele Identifier: CA1580469

Gene: IFT172

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27463155G>A , CM000664.2:g.27463155G>A	GRCh38
NC_000002.11:g.27686022G>A , CM000664.1:g.27686022G>A	GRCh37
NC_000002.10:g.27539526G>A	NCBI36
NG_034068.1:g.31657C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_015662.3:c.1964C>T MANE Select	NP_056477.1:p.Ala655Val
ENST00000260570.8:c.1964C>T MANE Select	ENSP00000260570.3:p.Ala655Val
NM_015662.2:c.1964C>T	NP_056477.1:p.Ala655Val
ENST00000260570.7:c.1964C>T	ENSP00000260570.3:p.Ala655Val
ENST00000507184.5:n.2096C>T
ENST00000674701.1:c.*1137C>T	ENSP00000502275.1:n.*1137C>T
ENST00000674824.1:c.1590C>T	ENSP00000501824.1:p.Ser530=
ENST00000674932.1:c.*1561C>T	ENSP00000501967.1:n.*1561C>T
ENST00000675410.1:c.1283C>T	ENSP00000502030.1:p.Ala428Val
ENST00000675690.1:c.1898C>T	ENSP00000502283.1:p.Ala633Val
ENST00000676119.1:c.*1254C>T	ENSP00000501701.1:n.*1254C>T
XM_005264254.1:c.1898C>T	XP_005264311.1:p.Ala633Val
XM_006711986.2:c.1901C>T	XP_006712049.1:p.Ala634Val
XM_006711986.3:c.1901C>T	XP_006712049.1:p.Ala634Val
XM_006711987.1:c.1964C>T	XP_006712050.1:p.Ala655Val
XM_011532757.1:c.1283C>T	XP_011531059.1:p.Ala428Val
XM_011532757.2:c.1283C>T	XP_011531059.1:p.Ala428Val
XM_011532758.1:c.1964C>T	XP_011531060.1:p.Ala655Val
XM_011532759.1:c.404C>T	XP_011531061.1:p.Ala135Val
XM_011532759.2:c.404C>T	XP_011531061.1:p.Ala135Val
XM_011532760.1:c.29C>T	XP_011531062.1:p.Ala10Val
XM_011532760.2:c.29C>T	XP_011531062.1:p.Ala10Val
XM_017003790.1:c.1835C>T	XP_016859279.1:p.Ala612Val
XM_017003791.1:c.1283C>T	XP_016859280.1:p.Ala428Val
XM_017003792.1:c.1964C>T	XP_016859281.1:p.Ala655Val
XM_017003793.1:c.101C>T	XP_016859282.1:p.Ala34Val
XM_017003794.1:c.101C>T	XP_016859283.1:p.Ala34Val
XM_017003795.1:c.-104C>T	XP_016859284.1:n.-104C>T
XR_001738698.1:n.2019C>T