Canonical Allele Identifier: CA255784

Gene: BTK

Linked Data

• ClinVar Variation Id: 11342
• ClinVar RCV Id: RCV000012095 ; RCV000581245 ; RCV001204367 ; RCV001267912
• dbSNP Id: rs128620183
• COSMIC: COSM6444640
• MyVariant Identifiers: chrX:g.100609675C>T (hg19) ; chrX:g.101354687C>T (hg38)
• PubMed: PMID:7809124 ; PMID:8090769 ; PMID:8380905 ; PMID:9445504 ; PMID:17327079 ; PMID:22442492

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101354687C>T , CM000685.2:g.101354687C>T	GRCh38
NC_000023.10:g.100609675C>T , CM000685.1:g.100609675C>T	GRCh37
NC_000023.9:g.100496331C>T	NCBI36
NG_009616.1:g.36538G>A , LRG_128:g.36538G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.3091G>A
ENST00000488970.2:n.3089G>A
ENST00000695614.1:c.1574G>A	ENSP00000512053.1:p.Arg525Gln
ENST00000695615.1:c.1574G>A	ENSP00000512054.1:p.Arg525Gln
ENST00000695616.1:c.*1419G>A	ENSP00000512055.1:n.*1419G>A
ENST00000695617.1:c.1571G>A	ENSP00000512056.1:p.Arg524Gln
ENST00000695618.1:c.*1323G>A	ENSP00000512058.1:n.*1323G>A
ENST00000695619.1:c.*1284G>A	ENSP00000512059.1:n.*1284G>A
ENST00000695620.1:c.*1500G>A	ENSP00000512060.1:n.*1500G>A
ENST00000695621.1:c.1574G>A	ENSP00000512061.1:p.Arg525Gln
ENST00000695622.1:c.1511G>A	ENSP00000512062.1:p.Arg504Gln
ENST00000695623.1:c.1568G>A	ENSP00000512063.1:p.Arg523Gln
ENST00000695624.1:n.879G>A
ENST00000695625.1:c.1574G>A	ENSP00000512064.1:p.Arg525Gln
ENST00000695626.1:c.329G>A	ENSP00000512065.1:n.329G>A
ENST00000695627.1:c.580-699G>A	ENSP00000512066.1:n.580-699G>A
ENST00000695628.1:c.191-699G>A	ENSP00000512067.1:n.191-699G>A
ENST00000695629.1:c.191-1336G>A	ENSP00000512068.1:n.191-1336G>A
ENST00000695630.1:c.359-699G>A
ENST00000695631.1:c.115-1439G>A
ENST00000695632.1:n.374G>A
ENST00000703407.1:c.1046G>A	ENSP00000512057.1:p.Arg349Gln
ENST00000308731.8:c.1574G>A MANE Select	ENSP00000308176.8:p.Arg525Gln
ENST00000308731.7:c.1574G>A	ENSP00000308176.7:p.Arg525Gln
ENST00000372880.5:c.1046G>A	ENSP00000361971.1:p.Arg349Gln
ENST00000618050.4:c.1574G>A	ENSP00000479125.1:p.Arg525Gln
ENST00000621635.4:c.1676G>A	ENSP00000483570.1:p.Arg559Gln
NM_000061.2:c.1574G>A , LRG_128t1:c.1574G>A	NP_000052.1:p.Arg525Gln
NM_001287344.1:c.1676G>A	NP_001274273.1:p.Arg559Gln
NM_001287345.1:c.1046G>A	NP_001274274.1:p.Arg349Gln
NM_000061.3:c.1574G>A MANE Select	NP_000052.1:p.Arg525Gln
NM_001287344.2:c.1676G>A	NP_001274273.1:p.Arg559Gln
NM_001287345.2:c.1046G>A	NP_001274274.1:p.Arg349Gln