Canonical Allele Identifier: CA354109294

Gene: IQCB1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.121770564A>C , CM000665.2:g.121770564A>C	GRCh38
NC_000003.11:g.121489411A>C , CM000665.1:g.121489411A>C	GRCh37
NC_000003.10:g.122972101A>C	NCBI36
NG_015887.1:g.69516T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310864.11:c.1578T>G MANE Select	ENSP00000311505.6:p.Ser526Arg
ENST00000310864.10:c.1578T>G	ENSP00000311505.6:p.Ser526Arg
ENST00000349820.10:c.1179T>G	ENSP00000323756.7:p.Ser393Arg
ENST00000393650.7:c.*556T>G	ENSP00000377261.3:n.*556T>G
NM_001023570.2:c.1578T>G	NP_001018864.2:p.Ser526Arg
NM_001023571.2:c.1179T>G	NP_001018865.2:p.Ser393Arg
XM_005247911.2:c.1421T>G	XP_005247968.1:p.Val474Gly
XM_005247912.1:c.1026T>G	XP_005247969.1:p.Ser342Arg
XM_011513335.1:c.1026T>G	XP_011511637.1:p.Ser342Arg
XR_924221.1:n.1595T>G
NM_001023570.3:c.1578T>G	NP_001018864.2:p.Ser526Arg
NM_001023571.3:c.1179T>G	NP_001018865.2:p.Ser393Arg
NM_001319107.1:c.1578T>G	NP_001306036.1:p.Ser526Arg
NR_134968.1:n.1682T>G
XM_005247911.4:c.1421T>G	XP_005247968.1:p.Val474Gly
XM_005247912.3:c.1026T>G	XP_005247969.1:p.Ser342Arg
XM_011513335.3:c.1026T>G	XP_011511637.1:p.Ser342Arg
XM_017007537.2:c.1026T>G	XP_016863026.1:p.Ser342Arg
XM_017007539.2:c.1022T>G	XP_016863028.1:p.Val341Gly
XM_024453833.1:c.1026T>G	XP_024309601.1:p.Ser342Arg
XM_024453834.1:c.1026T>G	XP_024309602.1:p.Ser342Arg
XR_001740376.2:n.1557T>G
XR_001740377.2:n.1400T>G
XR_001740378.2:n.1596T>G
XR_001740379.2:n.1447T>G
XR_001740380.2:n.1439T>G
XR_001740381.2:n.1290T>G
NM_001023570.4:c.1578T>G MANE Select	NP_001018864.2:p.Ser526Arg
NM_001023571.4:c.1179T>G	NP_001018865.2:p.Ser393Arg
NM_001319107.2:c.1578T>G	NP_001306036.1:p.Ser526Arg
NR_134968.2:n.1663T>G