Canonical Allele Identifier: CA82701113
Community Standard Title: NM_001023570.4(IQCB1):c.263+1G>T
Gene: IQCB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.121828469C>A , CM000665.2:g.121828469C>A GRCh38
NC_000003.11:g.121547316C>A , CM000665.1:g.121547316C>A GRCh37
NC_000003.10:g.123030006C>A NCBI36
NG_015887.1:g.11611G>T

Transcript Alleles

HGVS Amino-acid Change
NM_001023570.4:c.263+1G>T MANE Select NP_001018864.2:n.263+1G>T
ENST00000310864.11:c.263+1G>T MANE Select ENSP00000311505.6:n.263+1G>T
NM_001023570.2:c.263+1G>T NP_001018864.2:n.263+1G>T
NM_001023570.3:c.263+1G>T NP_001018864.2:n.263+1G>T
NM_001023571.2:c.263+1G>T NP_001018865.2:n.263+1G>T
NM_001023571.3:c.263+1G>T NP_001018865.2:n.263+1G>T
NM_001023571.4:c.263+1G>T NP_001018865.2:n.263+1G>T
NM_001319107.1:c.263+1G>T NP_001306036.1:n.263+1G>T
NM_001319107.2:c.263+1G>T NP_001306036.1:n.263+1G>T
NR_134968.1:n.477+1G>T
NR_134968.2:n.458+1G>T
ENST00000310864.10:c.263+1G>T ENSP00000311505.6:n.263+1G>T
ENST00000349820.10:c.263+1G>T ENSP00000323756.7:n.263+1G>T
ENST00000393650.7:c.263+1G>T ENSP00000377261.3:n.263+1G>T
ENST00000460108.5:c.-290+392G>T ENSP00000419168.1:n.-290+392G>T
ENST00000498104.1:c.-196+392G>T ENSP00000417832.1:n.-196+392G>T
XM_005247911.2:c.263+1G>T XP_005247968.1:n.263+1G>T
XM_005247911.4:c.263+1G>T XP_005247968.1:n.263+1G>T
XM_005247912.1:c.-290+392G>T XP_005247969.1:n.-290+392G>T
XM_005247912.3:c.-290+392G>T XP_005247969.1:n.-290+392G>T
XM_005247913.1:c.263+1G>T XP_005247970.1:n.263+1G>T
XM_011513335.1:c.-196+392G>T XP_011511637.1:n.-196+392G>T
XM_011513335.3:c.-196+392G>T XP_011511637.1:n.-196+392G>T
XM_017007537.2:c.-196+1G>T XP_016863026.1:n.-196+1G>T
XM_017007539.2:c.263+1G>T XP_016863028.1:n.263+1G>T
XM_024453833.1:c.-644+1G>T XP_024309601.1:n.-644+1G>T
XM_024453834.1:c.-644+392G>T XP_024309602.1:n.-644+392G>T
XR_001740376.2:n.391+1G>T
XR_001740377.2:n.391+1G>T
XR_001740378.2:n.391+1G>T
XR_001740379.2:n.391+1G>T
XR_001740380.2:n.391+1G>T
XR_001740381.2:n.391+1G>T
XR_924221.1:n.390+1G>T