Canonical Allele Identifier: CA174612

Gene: IBTK

Linked Data

• ClinVar Variation Id: 161695
• ClinVar RCV Id: RCV000149231
• dbSNP Id: rs193921029
• gnomAD v3: 6-82191142-T-A
• gnomAD v4: 6-82191142-T-A
• COSMIC: COSM1178994
• MyVariant Identifiers: chr6:g.82900859T>A (hg19) ; chr6:g.82191142T>A (hg38)
• PubMed: PMID:23265383

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.82191142T>A , CM000668.2:g.82191142T>A	GRCh38
NC_000006.11:g.82900859T>A , CM000668.1:g.82900859T>A	GRCh37
NC_000006.10:g.82957578T>A	NCBI36
NG_047139.1:g.61613A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000306270.12:c.3506A>T MANE Select	ENSP00000305721.7:p.Asn1169Ile
ENST00000306270.11:c.3506A>T	ENSP00000305721.7:p.Asn1169Ile
ENST00000445419.6:n.1921A>T
ENST00000471036.1:c.143A>T	ENSP00000424634.1:p.Asn48Ile
ENST00000503400.5:c.*2817A>T	ENSP00000422136.1:n.*2817A>T
ENST00000503631.5:c.2903A>T	ENSP00000422762.1:p.Asn968Ile
ENST00000505222.5:n.3552A>T
ENST00000510291.5:c.3461A>T	ENSP00000426405.1:p.Asn1154Ile
ENST00000610980.4:c.2903A>T	ENSP00000478891.1:p.Asn968Ile
NM_001300906.1:c.3461A>T	NP_001287835.1:p.Asn1154Ile
NM_015525.3:c.3506A>T	NP_056340.2:p.Asn1169Ile
XM_006715453.1:c.3506A>T	XP_006715516.1:p.Asn1169Ile
XM_006715454.1:c.3461A>T	XP_006715517.1:p.Asn1154Ile
XM_006715453.3:c.3506A>T	XP_006715516.1:p.Asn1169Ile
XM_006715454.3:c.3461A>T	XP_006715517.1:p.Asn1154Ile
NM_015525.4:c.3506A>T MANE Select	NP_056340.2:p.Asn1169Ile
NM_001300906.2:c.3461A>T	NP_001287835.1:p.Asn1154Ile