Canonical Allele Identifier: CA82726000

Gene: IQCB1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.121781820G>A , CM000665.2:g.121781820G>A	GRCh38
NC_000003.11:g.121500667G>A , CM000665.1:g.121500667G>A	GRCh37
NC_000003.10:g.122983357G>A	NCBI36
NG_015887.1:g.58260C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001023570.4:c.1333C>T MANE Select	NP_001018864.2:p.Arg445Ter
ENST00000310864.11:c.1333C>T MANE Select	ENSP00000311505.6:p.Arg445Ter
NM_001023570.2:c.1333C>T	NP_001018864.2:p.Arg445Ter
NM_001023570.3:c.1333C>T	NP_001018864.2:p.Arg445Ter
NM_001023571.2:c.934C>T	NP_001018865.2:p.Arg312Ter
NM_001023571.3:c.934C>T	NP_001018865.2:p.Arg312Ter
NM_001023571.4:c.934C>T	NP_001018865.2:p.Arg312Ter
NM_001319107.1:c.1333C>T	NP_001306036.1:p.Arg445Ter
NM_001319107.2:c.1333C>T	NP_001306036.1:p.Arg445Ter
NR_134968.1:n.1437C>T
NR_134968.2:n.1418C>T
ENST00000310864.10:c.1333C>T	ENSP00000311505.6:p.Arg445Ter
ENST00000349820.10:c.934C>T	ENSP00000323756.7:p.Arg312Ter
ENST00000393650.7:c.*311C>T	ENSP00000377261.3:n.*311C>T
XM_005247911.2:c.1333C>T	XP_005247968.1:p.Arg445Ter
XM_005247911.4:c.1333C>T	XP_005247968.1:p.Arg445Ter
XM_005247912.1:c.781C>T	XP_005247969.1:p.Arg261Ter
XM_005247912.3:c.781C>T	XP_005247969.1:p.Arg261Ter
XM_005247913.1:c.*47C>T	XP_005247970.1:n.*47C>T
XM_011513335.1:c.781C>T	XP_011511637.1:p.Arg261Ter
XM_011513335.3:c.781C>T	XP_011511637.1:p.Arg261Ter
XM_017007537.2:c.781C>T	XP_016863026.1:p.Arg261Ter
XM_017007539.2:c.934C>T	XP_016863028.1:p.Arg312Ter
XM_024453833.1:c.781C>T	XP_024309601.1:p.Arg261Ter
XM_024453834.1:c.781C>T	XP_024309602.1:p.Arg261Ter
XR_001740376.2:n.1312C>T
XR_001740377.2:n.1312C>T
XR_001740378.2:n.1351C>T
XR_001740379.2:n.1202C>T
XR_001740380.2:n.1351C>T
XR_001740381.2:n.1202C>T
XR_924221.1:n.1350C>T