Canonical Allele Identifier: CA2567138

Gene: IQCB1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.121781874C>T , CM000665.2:g.121781874C>T	GRCh38
NC_000003.11:g.121500721C>T , CM000665.1:g.121500721C>T	GRCh37
NC_000003.10:g.122983411C>T	NCBI36
NG_015887.1:g.58206G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001023570.4:c.1279G>A MANE Select	NP_001018864.2:p.Ala427Thr
ENST00000310864.11:c.1279G>A MANE Select	ENSP00000311505.6:p.Ala427Thr
NM_001023570.2:c.1279G>A	NP_001018864.2:p.Ala427Thr
NM_001023570.3:c.1279G>A	NP_001018864.2:p.Ala427Thr
NM_001023571.2:c.880G>A	NP_001018865.2:p.Ala294Thr
NM_001023571.3:c.880G>A	NP_001018865.2:p.Ala294Thr
NM_001023571.4:c.880G>A	NP_001018865.2:p.Ala294Thr
NM_001319107.1:c.1279G>A	NP_001306036.1:p.Ala427Thr
NM_001319107.2:c.1279G>A	NP_001306036.1:p.Ala427Thr
NR_134968.1:n.1383G>A
NR_134968.2:n.1364G>A
ENST00000310864.10:c.1279G>A	ENSP00000311505.6:p.Ala427Thr
ENST00000349820.10:c.880G>A	ENSP00000323756.7:p.Ala294Thr
ENST00000393650.7:c.*257G>A	ENSP00000377261.3:n.*257G>A
XM_005247911.2:c.1279G>A	XP_005247968.1:p.Ala427Thr
XM_005247911.4:c.1279G>A	XP_005247968.1:p.Ala427Thr
XM_005247912.1:c.727G>A	XP_005247969.1:p.Ala243Thr
XM_005247912.3:c.727G>A	XP_005247969.1:p.Ala243Thr
XM_005247913.1:c.1130G>A	XP_005247970.1:p.Gly377Asp
XM_011513335.1:c.727G>A	XP_011511637.1:p.Ala243Thr
XM_011513335.3:c.727G>A	XP_011511637.1:p.Ala243Thr
XM_017007537.2:c.727G>A	XP_016863026.1:p.Ala243Thr
XM_017007539.2:c.880G>A	XP_016863028.1:p.Ala294Thr
XM_024453833.1:c.727G>A	XP_024309601.1:p.Ala243Thr
XM_024453834.1:c.727G>A	XP_024309602.1:p.Ala243Thr
XR_001740376.2:n.1258G>A
XR_001740377.2:n.1258G>A
XR_001740378.2:n.1297G>A
XR_001740379.2:n.1148G>A
XR_001740380.2:n.1297G>A
XR_001740381.2:n.1148G>A
XR_924221.1:n.1296G>A