Canonical Allele Identifier: CA545637401
Community Standard Title: NM_001023570.4(IQCB1):c.1279-17A>C
Gene: IQCB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.121781891T>G , CM000665.2:g.121781891T>G GRCh38
NC_000003.11:g.121500738T>G , CM000665.1:g.121500738T>G GRCh37
NC_000003.10:g.122983428T>G NCBI36
NG_015887.1:g.58189A>C

Transcript Alleles

HGVS Amino-acid Change
NM_001023570.4:c.1279-17A>C MANE Select NP_001018864.2:n.1279-17A>C
ENST00000310864.11:c.1279-17A>C MANE Select ENSP00000311505.6:n.1279-17A>C
NM_001023570.2:c.1279-17A>C NP_001018864.2:n.1279-17A>C
NM_001023570.3:c.1279-17A>C NP_001018864.2:n.1279-17A>C
NM_001023571.2:c.880-17A>C NP_001018865.2:n.880-17A>C
NM_001023571.3:c.880-17A>C NP_001018865.2:n.880-17A>C
NM_001023571.4:c.880-17A>C NP_001018865.2:n.880-17A>C
NM_001319107.1:c.1279-17A>C NP_001306036.1:n.1279-17A>C
NM_001319107.2:c.1279-17A>C NP_001306036.1:n.1279-17A>C
NR_134968.1:n.1383-17A>C
NR_134968.2:n.1364-17A>C
ENST00000310864.10:c.1279-17A>C ENSP00000311505.6:n.1279-17A>C
ENST00000349820.10:c.880-17A>C ENSP00000323756.7:n.880-17A>C
ENST00000393650.7:c.*257-17A>C ENSP00000377261.3:n.*257-17A>C
XM_005247911.2:c.1279-17A>C XP_005247968.1:n.1279-17A>C
XM_005247911.4:c.1279-17A>C XP_005247968.1:n.1279-17A>C
XM_005247912.1:c.727-17A>C XP_005247969.1:n.727-17A>C
XM_005247912.3:c.727-17A>C XP_005247969.1:n.727-17A>C
XM_005247913.1:c.1130-17A>C XP_005247970.1:n.1130-17A>C
XM_011513335.1:c.727-17A>C XP_011511637.1:n.727-17A>C
XM_011513335.3:c.727-17A>C XP_011511637.1:n.727-17A>C
XM_017007537.2:c.727-17A>C XP_016863026.1:n.727-17A>C
XM_017007539.2:c.880-17A>C XP_016863028.1:n.880-17A>C
XM_024453833.1:c.727-17A>C XP_024309601.1:n.727-17A>C
XM_024453834.1:c.727-17A>C XP_024309602.1:n.727-17A>C
XR_001740376.2:n.1258-17A>C
XR_001740377.2:n.1258-17A>C
XR_001740378.2:n.1297-17A>C
XR_001740379.2:n.1148-17A>C
XR_001740380.2:n.1297-17A>C
XR_001740381.2:n.1148-17A>C
XR_924221.1:n.1296-17A>C