Canonical Allele Identifier: CA2567112

Gene: IQCB1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.121781760A>G , CM000665.2:g.121781760A>G	GRCh38
NC_000003.11:g.121500607A>G , CM000665.1:g.121500607A>G	GRCh37
NC_000003.10:g.122983297A>G	NCBI36
NG_015887.1:g.58320T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001023570.4:c.1393T>C MANE Select	NP_001018864.2:p.Tyr465His
ENST00000310864.11:c.1393T>C MANE Select	ENSP00000311505.6:p.Tyr465His
NM_001023570.2:c.1393T>C	NP_001018864.2:p.Tyr465His
NM_001023570.3:c.1393T>C	NP_001018864.2:p.Tyr465His
NM_001023571.2:c.994T>C	NP_001018865.2:p.Tyr332His
NM_001023571.3:c.994T>C	NP_001018865.2:p.Tyr332His
NM_001023571.4:c.994T>C	NP_001018865.2:p.Tyr332His
NM_001319107.1:c.1393T>C	NP_001306036.1:p.Tyr465His
NM_001319107.2:c.1393T>C	NP_001306036.1:p.Tyr465His
NR_134968.1:n.1497T>C
NR_134968.2:n.1478T>C
ENST00000310864.10:c.1393T>C	ENSP00000311505.6:p.Tyr465His
ENST00000349820.10:c.994T>C	ENSP00000323756.7:p.Tyr332His
ENST00000393650.7:c.*371T>C	ENSP00000377261.3:n.*371T>C
XM_005247911.2:c.1393T>C	XP_005247968.1:p.Tyr465His
XM_005247911.4:c.1393T>C	XP_005247968.1:p.Tyr465His
XM_005247912.1:c.841T>C	XP_005247969.1:p.Tyr281His
XM_005247912.3:c.841T>C	XP_005247969.1:p.Tyr281His
XM_005247913.1:c.*107T>C	XP_005247970.1:n.*107T>C
XM_011513335.1:c.841T>C	XP_011511637.1:p.Tyr281His
XM_011513335.3:c.841T>C	XP_011511637.1:p.Tyr281His
XM_017007537.2:c.841T>C	XP_016863026.1:p.Tyr281His
XM_017007539.2:c.994T>C	XP_016863028.1:p.Tyr332His
XM_024453833.1:c.841T>C	XP_024309601.1:p.Tyr281His
XM_024453834.1:c.841T>C	XP_024309602.1:p.Tyr281His
XR_001740376.2:n.1372T>C
XR_001740377.2:n.1372T>C
XR_001740378.2:n.1411T>C
XR_001740379.2:n.1262T>C
XR_001740380.2:n.1411T>C
XR_001740381.2:n.1262T>C
XR_924221.1:n.1410T>C