Canonical Allele Identifier: CA1580022

Gene: IFT172

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27456514T>C , CM000664.2:g.27456514T>C	GRCh38
NC_000002.11:g.27679381T>C , CM000664.1:g.27679381T>C	GRCh37
NC_000002.10:g.27532885T>C	NCBI36
NG_034068.1:g.38298A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_015662.3:c.3368A>G MANE Select	NP_056477.1:p.Asn1123Ser
ENST00000260570.8:c.3368A>G MANE Select	ENSP00000260570.3:p.Asn1123Ser
NM_015662.2:c.3368A>G	NP_056477.1:p.Asn1123Ser
ENST00000260570.7:c.3368A>G	ENSP00000260570.3:p.Asn1123Ser
ENST00000507184.5:n.3649A>G
ENST00000674701.1:c.*2690A>G	ENSP00000502275.1:n.*2690A>G
ENST00000674824.1:c.*1383A>G	ENSP00000501824.1:n.*1383A>G
ENST00000674932.1:c.*3623A>G	ENSP00000501967.1:n.*3623A>G
ENST00000675410.1:c.*1048A>G	ENSP00000502030.1:n.*1048A>G
ENST00000675690.1:c.3302A>G	ENSP00000502283.1:p.Asn1101Ser
ENST00000676119.1:c.*2658A>G	ENSP00000501701.1:n.*2658A>G
XM_005264254.1:c.3302A>G	XP_005264311.1:p.Asn1101Ser
XM_006711986.2:c.3305A>G	XP_006712049.1:p.Asn1102Ser
XM_006711986.3:c.3305A>G	XP_006712049.1:p.Asn1102Ser
XM_006711987.1:c.3368A>G	XP_006712050.1:p.Asn1123Ser
XM_011532757.1:c.2687A>G	XP_011531059.1:p.Asn896Ser
XM_011532757.2:c.2687A>G	XP_011531059.1:p.Asn896Ser
XM_011532758.1:c.3368A>G	XP_011531060.1:p.Asn1123Ser
XM_011532759.1:c.1808A>G	XP_011531061.1:p.Asn603Ser
XM_011532759.2:c.1808A>G	XP_011531061.1:p.Asn603Ser
XM_011532760.1:c.1433A>G	XP_011531062.1:p.Asn478Ser
XM_011532760.2:c.1433A>G	XP_011531062.1:p.Asn478Ser
XM_017003790.1:c.3239A>G	XP_016859279.1:p.Asn1080Ser
XM_017003791.1:c.2687A>G	XP_016859280.1:p.Asn896Ser
XM_017003792.1:c.3368A>G	XP_016859281.1:p.Asn1123Ser
XM_017003793.1:c.1505A>G	XP_016859282.1:p.Asn502Ser
XM_017003794.1:c.1505A>G	XP_016859283.1:p.Asn502Ser
XM_017003795.1:c.1301A>G	XP_016859284.1:p.Asn434Ser
XR_001738698.1:n.3423A>G