Canonical Allele Identifier: CA354114590
Community Standard Title: NM_001023570.4(IQCB1):c.100+1G>A
Gene: IQCB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.121828860C>T , CM000665.2:g.121828860C>T GRCh38
NC_000003.11:g.121547707C>T , CM000665.1:g.121547707C>T GRCh37
NC_000003.10:g.123030397C>T NCBI36
NG_015887.1:g.11220G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001023570.4:c.100+1G>A MANE Select NP_001018864.2:n.100+1G>A
ENST00000310864.11:c.100+1G>A MANE Select ENSP00000311505.6:n.100+1G>A
NM_001023570.2:c.100+1G>A NP_001018864.2:n.100+1G>A
NM_001023570.3:c.100+1G>A NP_001018864.2:n.100+1G>A
NM_001023571.2:c.100+1G>A NP_001018865.2:n.100+1G>A
NM_001023571.3:c.100+1G>A NP_001018865.2:n.100+1G>A
NM_001023571.4:c.100+1G>A NP_001018865.2:n.100+1G>A
NM_001319107.1:c.100+1G>A NP_001306036.1:n.100+1G>A
NM_001319107.2:c.100+1G>A NP_001306036.1:n.100+1G>A
NR_134968.1:n.314+1G>A
NR_134968.2:n.295+1G>A
ENST00000310864.10:c.100+1G>A ENSP00000311505.6:n.100+1G>A
ENST00000349820.10:c.100+1G>A ENSP00000323756.7:n.100+1G>A
ENST00000393650.7:c.100+1G>A ENSP00000377261.3:n.100+1G>A
ENST00000460108.5:c.-290+1G>A ENSP00000419168.1:n.-290+1G>A
ENST00000462442.1:c.100+1G>A ENSP00000419376.1:n.100+1G>A
ENST00000498104.1:c.-196+1G>A ENSP00000417832.1:n.-196+1G>A
XM_005247911.2:c.100+1G>A XP_005247968.1:n.100+1G>A
XM_005247911.4:c.100+1G>A XP_005247968.1:n.100+1G>A
XM_005247912.1:c.-290+1G>A XP_005247969.1:n.-290+1G>A
XM_005247912.3:c.-290+1G>A XP_005247969.1:n.-290+1G>A
XM_005247913.1:c.100+1G>A XP_005247970.1:n.100+1G>A
XM_011513335.1:c.-196+1G>A XP_011511637.1:n.-196+1G>A
XM_011513335.3:c.-196+1G>A XP_011511637.1:n.-196+1G>A
XM_017007537.2:c.-359+1G>A XP_016863026.1:n.-359+1G>A
XM_017007539.2:c.100+1G>A XP_016863028.1:n.100+1G>A
XM_024453833.1:c.-807+1G>A XP_024309601.1:n.-807+1G>A
XM_024453834.1:c.-644+1G>A XP_024309602.1:n.-644+1G>A
XR_001740376.2:n.228+1G>A
XR_001740377.2:n.228+1G>A
XR_001740378.2:n.228+1G>A
XR_001740379.2:n.228+1G>A
XR_001740380.2:n.228+1G>A
XR_001740381.2:n.228+1G>A
XR_924221.1:n.227+1G>A