Canonical Allele Identifier: CA2567116

Gene: IQCB1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.121781789C>T , CM000665.2:g.121781789C>T	GRCh38
NC_000003.11:g.121500636C>T , CM000665.1:g.121500636C>T	GRCh37
NC_000003.10:g.122983326C>T	NCBI36
NG_015887.1:g.58291G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001023570.4:c.1364G>A MANE Select	NP_001018864.2:p.Arg455Gln
ENST00000310864.11:c.1364G>A MANE Select	ENSP00000311505.6:p.Arg455Gln
NM_001023570.2:c.1364G>A	NP_001018864.2:p.Arg455Gln
NM_001023570.3:c.1364G>A	NP_001018864.2:p.Arg455Gln
NM_001023571.2:c.965G>A	NP_001018865.2:p.Arg322Gln
NM_001023571.3:c.965G>A	NP_001018865.2:p.Arg322Gln
NM_001023571.4:c.965G>A	NP_001018865.2:p.Arg322Gln
NM_001319107.1:c.1364G>A	NP_001306036.1:p.Arg455Gln
NM_001319107.2:c.1364G>A	NP_001306036.1:p.Arg455Gln
NR_134968.1:n.1468G>A
NR_134968.2:n.1449G>A
ENST00000310864.10:c.1364G>A	ENSP00000311505.6:p.Arg455Gln
ENST00000349820.10:c.965G>A	ENSP00000323756.7:p.Arg322Gln
ENST00000393650.7:c.*342G>A	ENSP00000377261.3:n.*342G>A
XM_005247911.2:c.1364G>A	XP_005247968.1:p.Arg455Gln
XM_005247911.4:c.1364G>A	XP_005247968.1:p.Arg455Gln
XM_005247912.1:c.812G>A	XP_005247969.1:p.Arg271Gln
XM_005247912.3:c.812G>A	XP_005247969.1:p.Arg271Gln
XM_005247913.1:c.*78G>A	XP_005247970.1:n.*78G>A
XM_011513335.1:c.812G>A	XP_011511637.1:p.Arg271Gln
XM_011513335.3:c.812G>A	XP_011511637.1:p.Arg271Gln
XM_017007537.2:c.812G>A	XP_016863026.1:p.Arg271Gln
XM_017007539.2:c.965G>A	XP_016863028.1:p.Arg322Gln
XM_024453833.1:c.812G>A	XP_024309601.1:p.Arg271Gln
XM_024453834.1:c.812G>A	XP_024309602.1:p.Arg271Gln
XR_001740376.2:n.1343G>A
XR_001740377.2:n.1343G>A
XR_001740378.2:n.1382G>A
XR_001740379.2:n.1233G>A
XR_001740380.2:n.1382G>A
XR_001740381.2:n.1233G>A
XR_924221.1:n.1381G>A