Canonical Allele Identifier: CA346393938

Gene: IFT172

Linked Data

• MyVariant Identifiers: chr2:g.27700187C>G (hg19) ; chr2:g.27477320C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27477320C>G , CM000664.2:g.27477320C>G	GRCh38
NC_000002.11:g.27700187C>G , CM000664.1:g.27700187C>G	GRCh37
NC_000002.10:g.27553691C>G	NCBI36
NG_034068.1:g.17492G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000260570.8:c.1222G>C MANE Select	ENSP00000260570.3:p.Val408Leu
ENST00000476264.7:n.1511G>C
ENST00000674701.1:c.1222G>C	ENSP00000502275.1:p.Val408Leu
ENST00000674824.1:c.1159G>C	ENSP00000501824.1:p.Val387Leu
ENST00000674932.1:c.*885G>C	ENSP00000501967.1:n.*885G>C
ENST00000675410.1:c.541G>C	ENSP00000502030.1:p.Val181Leu
ENST00000675618.1:n.1302G>C
ENST00000675690.1:c.1222G>C	ENSP00000502283.1:p.Val408Leu
ENST00000675728.1:c.1159G>C	ENSP00000501700.1:p.Val387Leu
ENST00000675729.1:c.1222G>C	ENSP00000502319.1:p.Val408Leu
ENST00000675963.1:c.*920G>C	ENSP00000502708.1:n.*920G>C
ENST00000676119.1:c.*512G>C	ENSP00000501701.1:n.*512G>C
ENST00000676300.1:n.1546G>C
ENST00000260570.7:c.1222G>C	ENSP00000260570.3:p.Val408Leu
ENST00000359466.10:c.1222G>C	ENSP00000352443.6:p.Val408Leu
ENST00000416524.2:c.1159G>C	ENSP00000407408.2:p.Val387Leu
ENST00000476264.6:n.1168G>C
ENST00000507184.5:n.1354G>C
ENST00000511842.5:n.1247G>C
NM_015662.2:c.1222G>C	NP_056477.1:p.Val408Leu
XM_005264254.1:c.1222G>C	XP_005264311.1:p.Val408Leu
XM_006711986.2:c.1159G>C	XP_006712049.1:p.Val387Leu
XM_006711987.1:c.1222G>C	XP_006712050.1:p.Val408Leu
XM_011532757.1:c.541G>C	XP_011531059.1:p.Val181Leu
XM_011532758.1:c.1222G>C	XP_011531060.1:p.Val408Leu
XM_006711986.3:c.1159G>C	XP_006712049.1:p.Val387Leu
XM_011532757.2:c.541G>C	XP_011531059.1:p.Val181Leu
XM_017003790.1:c.1159G>C	XP_016859279.1:p.Val387Leu
XM_017003791.1:c.541G>C	XP_016859280.1:p.Val181Leu
XM_017003792.1:c.1222G>C	XP_016859281.1:p.Val408Leu
XM_017003793.1:c.-229G>C	XP_016859282.1:n.-229G>C
XM_017003794.1:c.-229G>C	XP_016859283.1:n.-229G>C
XM_017003795.1:c.-601G>C	XP_016859284.1:n.-601G>C
XR_001738698.1:n.1277G>C
NM_015662.3:c.1222G>C MANE Select	NP_056477.1:p.Val408Leu