Canonical Allele Identifier: CA413919452

Gene: BTK

Linked Data

• ClinVar Variation Id: 1362382
• ClinVar RCV Id: RCV001900149
• dbSNP Id: rs2147424197
• MyVariant Identifiers: chrX:g.100608312A>G (hg19) ; chrX:g.101353324A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353324A>G , CM000685.2:g.101353324A>G	GRCh38
NC_000023.10:g.100608312A>G , CM000685.1:g.100608312A>G	GRCh37
NC_000023.9:g.100494968A>G	NCBI36
NG_009616.1:g.37901T>C , LRG_128:g.37901T>C
NG_011734.1:g.646T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.3295T>C
ENST00000488970.2:n.3934T>C
ENST00000695614.1:c.1778T>C	ENSP00000512053.1:p.Leu593Pro
ENST00000695615.1:c.1778T>C	ENSP00000512054.1:p.Leu593Pro
ENST00000695616.1:c.*1623T>C	ENSP00000512055.1:n.*1623T>C
ENST00000695617.1:c.1775T>C	ENSP00000512056.1:p.Leu592Pro
ENST00000695618.1:c.*1527T>C	ENSP00000512058.1:n.*1527T>C
ENST00000695619.1:c.*1488T>C	ENSP00000512059.1:n.*1488T>C
ENST00000695620.1:c.*1704T>C	ENSP00000512060.1:n.*1704T>C
ENST00000695621.1:c.*203T>C	ENSP00000512061.1:n.*203T>C
ENST00000695622.1:c.1715T>C	ENSP00000512062.1:p.Leu572Pro
ENST00000695623.1:c.1772T>C	ENSP00000512063.1:p.Leu591Pro
ENST00000695624.1:n.1083T>C
ENST00000695625.1:c.1778T>C	ENSP00000512064.1:p.Leu593Pro
ENST00000695626.1:c.533T>C	ENSP00000512065.1:n.533T>C
ENST00000695627.1:c.726T>C	ENSP00000512066.1:n.726T>C
ENST00000695628.1:c.337T>C	ENSP00000512067.1:n.337T>C
ENST00000695629.1:c.218T>C	ENSP00000512068.1:p.Leu73Pro
ENST00000695630.1:c.505T>C
ENST00000695631.1:c.115-76T>C
ENST00000703407.1:c.1250T>C	ENSP00000512057.1:p.Leu417Pro
ENST00000308731.8:c.1778T>C MANE Select	ENSP00000308176.8:p.Leu593Pro
ENST00000308731.7:c.1778T>C	ENSP00000308176.7:p.Leu593Pro
ENST00000372880.5:c.1250T>C	ENSP00000361971.1:p.Leu417Pro
ENST00000470069.1:n.143T>C
ENST00000488970.1:n.380T>C
ENST00000618050.4:c.1777T>C	ENSP00000479125.1:n.1777T>C
ENST00000621635.4:c.1880T>C	ENSP00000483570.1:p.Leu627Pro
NM_000061.2:c.1778T>C , LRG_128t1:c.1778T>C	NP_000052.1:p.Leu593Pro
NM_001287344.1:c.1880T>C	NP_001274273.1:p.Leu627Pro
NM_001287345.1:c.1250T>C	NP_001274274.1:p.Leu417Pro
NM_000061.3:c.1778T>C MANE Select	NP_000052.1:p.Leu593Pro
NM_001287344.2:c.1880T>C	NP_001274273.1:p.Leu627Pro
NM_001287345.2:c.1250T>C	NP_001274274.1:p.Leu417Pro