Canonical Allele Identifier: CA354109307

Gene: IQCB1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.121770566T>G , CM000665.2:g.121770566T>G	GRCh38
NC_000003.11:g.121489413T>G , CM000665.1:g.121489413T>G	GRCh37
NC_000003.10:g.122972103T>G	NCBI36
NG_015887.1:g.69514A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310864.11:c.1576A>C MANE Select	ENSP00000311505.6:p.Ser526Arg
ENST00000310864.10:c.1576A>C	ENSP00000311505.6:p.Ser526Arg
ENST00000349820.10:c.1177A>C	ENSP00000323756.7:p.Ser393Arg
ENST00000393650.7:c.*554A>C	ENSP00000377261.3:n.*554A>C
NM_001023570.2:c.1576A>C	NP_001018864.2:p.Ser526Arg
NM_001023571.2:c.1177A>C	NP_001018865.2:p.Ser393Arg
XM_005247911.2:c.1419A>C	XP_005247968.1:p.Gln473His
XM_005247912.1:c.1024A>C	XP_005247969.1:p.Ser342Arg
XM_011513335.1:c.1024A>C	XP_011511637.1:p.Ser342Arg
XR_924221.1:n.1593A>C
NM_001023570.3:c.1576A>C	NP_001018864.2:p.Ser526Arg
NM_001023571.3:c.1177A>C	NP_001018865.2:p.Ser393Arg
NM_001319107.1:c.1576A>C	NP_001306036.1:p.Ser526Arg
NR_134968.1:n.1680A>C
XM_005247911.4:c.1419A>C	XP_005247968.1:p.Gln473His
XM_005247912.3:c.1024A>C	XP_005247969.1:p.Ser342Arg
XM_011513335.3:c.1024A>C	XP_011511637.1:p.Ser342Arg
XM_017007537.2:c.1024A>C	XP_016863026.1:p.Ser342Arg
XM_017007539.2:c.1020A>C	XP_016863028.1:p.Gln340His
XM_024453833.1:c.1024A>C	XP_024309601.1:p.Ser342Arg
XM_024453834.1:c.1024A>C	XP_024309602.1:p.Ser342Arg
XR_001740376.2:n.1555A>C
XR_001740377.2:n.1398A>C
XR_001740378.2:n.1594A>C
XR_001740379.2:n.1445A>C
XR_001740380.2:n.1437A>C
XR_001740381.2:n.1288A>C
NM_001023570.4:c.1576A>C MANE Select	NP_001018864.2:p.Ser526Arg
NM_001023571.4:c.1177A>C	NP_001018865.2:p.Ser393Arg
NM_001319107.2:c.1576A>C	NP_001306036.1:p.Ser526Arg
NR_134968.2:n.1661A>C