Canonical Allele Identifier: CA10473070

Gene: BTK

Linked Data

• ClinVar Variation Id: 1971288
• ClinVar RCV Id: RCV002740619
• dbSNP Id: rs150176740
• ExAC: X:100613347 A / G
• gnomAD v2: X-100613347-A-G
• gnomAD v4: X-101358359-A-G
• MyVariant Identifiers: chrX:g.100613347A>G (hg19) ; chrX:g.101358359A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101358359A>G , CM000685.2:g.101358359A>G	GRCh38
NC_000023.10:g.100613347A>G , CM000685.1:g.100613347A>G	GRCh37
NC_000023.9:g.100500003A>G	NCBI36
NG_009616.1:g.32866T>C , LRG_128:g.32866T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000478995.2:n.1213T>C
ENST00000488970.2:n.1211T>C
ENST00000695614.1:c.1053T>C	ENSP00000512053.1:p.Leu351=
ENST00000695615.1:c.1053T>C	ENSP00000512054.1:p.Leu351=
ENST00000695616.1:c.*898T>C	ENSP00000512055.1:n.*898T>C
ENST00000695617.1:c.1050T>C	ENSP00000512056.1:p.Leu350=
ENST00000695618.1:c.*802T>C	ENSP00000512058.1:n.*802T>C
ENST00000695619.1:c.*763T>C	ENSP00000512059.1:n.*763T>C
ENST00000695620.1:c.*898T>C	ENSP00000512060.1:n.*898T>C
ENST00000695621.1:c.1053T>C	ENSP00000512061.1:p.Leu351=
ENST00000695622.1:c.990T>C	ENSP00000512062.1:p.Leu330=
ENST00000695623.1:c.1047T>C	ENSP00000512063.1:p.Leu349=
ENST00000695624.1:n.358T>C
ENST00000695625.1:c.1053T>C	ENSP00000512064.1:p.Leu351=
ENST00000695626.1:c.66T>C	ENSP00000512065.1:p.Leu22=
ENST00000695627.1:c.66T>C	ENSP00000512066.1:p.Leu22=
ENST00000695628.1:c.66T>C	ENSP00000512067.1:p.Leu22=
ENST00000695629.1:c.66T>C	ENSP00000512068.1:p.Leu22=
ENST00000695630.1:c.62T>C
ENST00000695631.1:c.65T>C
ENST00000695632.1:n.70T>C
ENST00000703407.1:c.1038+15T>C	ENSP00000512057.1:n.1038+15T>C
ENST00000308731.8:c.1053T>C MANE Select	ENSP00000308176.8:p.Leu351=
ENST00000308731.7:c.1053T>C	ENSP00000308176.7:p.Leu351=
ENST00000372880.5:c.1038+15T>C	ENSP00000361971.1:n.1038+15T>C
ENST00000470329.1:n.3T>C
ENST00000618050.4:c.1053T>C	ENSP00000479125.1:p.Leu351=
ENST00000621635.4:c.1155T>C	ENSP00000483570.1:p.Leu385=
NM_000061.2:c.1053T>C , LRG_128t1:c.1053T>C	NP_000052.1:p.Leu351=
NM_001287344.1:c.1155T>C	NP_001274273.1:p.Leu385=
NM_001287345.1:c.1038+15T>C	NP_001274274.1:n.1038+15T>C
NM_000061.3:c.1053T>C MANE Select	NP_000052.1:p.Leu351=
NM_001287344.2:c.1155T>C	NP_001274273.1:p.Leu385=
NM_001287345.2:c.1038+15T>C	NP_001274274.1:n.1038+15T>C