Canonical Allele Identifier: CA2567079

Gene: IQCB1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.121772619C>T , CM000665.2:g.121772619C>T	GRCh38
NC_000003.11:g.121491466C>T , CM000665.1:g.121491466C>T	GRCh37
NC_000003.10:g.122974156C>T	NCBI36
NG_015887.1:g.67461G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001023570.4:c.1505G>A MANE Select	NP_001018864.2:p.Arg502Gln
ENST00000310864.11:c.1505G>A MANE Select	ENSP00000311505.6:p.Arg502Gln
NM_001023570.2:c.1505G>A	NP_001018864.2:p.Arg502Gln
NM_001023570.3:c.1505G>A	NP_001018864.2:p.Arg502Gln
NM_001023571.2:c.1106G>A	NP_001018865.2:p.Arg369Gln
NM_001023571.3:c.1106G>A	NP_001018865.2:p.Arg369Gln
NM_001023571.4:c.1106G>A	NP_001018865.2:p.Arg369Gln
NM_001319107.1:c.1505G>A	NP_001306036.1:p.Arg502Gln
NM_001319107.2:c.1505G>A	NP_001306036.1:p.Arg502Gln
NR_134968.1:n.1609G>A
NR_134968.2:n.1590G>A
ENST00000310864.10:c.1505G>A	ENSP00000311505.6:p.Arg502Gln
ENST00000349820.10:c.1106G>A	ENSP00000323756.7:p.Arg369Gln
ENST00000393650.7:c.*483G>A	ENSP00000377261.3:n.*483G>A
XM_005247911.2:c.1411-2045G>A	XP_005247968.1:n.1411-2045G>A
XM_005247911.4:c.1411-2045G>A	XP_005247968.1:n.1411-2045G>A
XM_005247912.1:c.953G>A	XP_005247969.1:p.Arg318Gln
XM_005247912.3:c.953G>A	XP_005247969.1:p.Arg318Gln
XM_011513335.1:c.953G>A	XP_011511637.1:p.Arg318Gln
XM_011513335.3:c.953G>A	XP_011511637.1:p.Arg318Gln
XM_017007537.2:c.953G>A	XP_016863026.1:p.Arg318Gln
XM_017007539.2:c.1012-2045G>A	XP_016863028.1:n.1012-2045G>A
XM_024453833.1:c.953G>A	XP_024309601.1:p.Arg318Gln
XM_024453834.1:c.953G>A	XP_024309602.1:p.Arg318Gln
XR_001740376.2:n.1484G>A
XR_001740377.2:n.1390-2045G>A
XR_001740378.2:n.1523G>A
XR_001740379.2:n.1374G>A
XR_001740380.2:n.1429-2045G>A
XR_001740381.2:n.1280-2045G>A
XR_924221.1:n.1522G>A