Canonical Allele Identifier: CA10472967

Gene: BTK

Linked Data

• dbSNP Id: rs782389631
• ExAC: X:100608289 A / G
• gnomAD v2: X-100608289-A-G
• gnomAD v3: X-101353301-A-G
• gnomAD v4: X-101353301-A-G
• MyVariant Identifiers: chrX:g.100608289A>G (hg19) ; chrX:g.101353301A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353301A>G , CM000685.2:g.101353301A>G	GRCh38
NC_000023.10:g.100608289A>G , CM000685.1:g.100608289A>G	GRCh37
NC_000023.9:g.100494945A>G	NCBI36
NG_009616.1:g.37924T>C , LRG_128:g.37924T>C
NG_011734.1:g.669T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000478995.2:n.3318T>C
ENST00000488970.2:n.3957T>C
ENST00000695614.1:c.1801T>C	ENSP00000512053.1:p.Phe601Leu
ENST00000695615.1:c.1801T>C	ENSP00000512054.1:p.Phe601Leu
ENST00000695616.1:c.*1646T>C	ENSP00000512055.1:n.*1646T>C
ENST00000695617.1:c.1798T>C	ENSP00000512056.1:p.Phe600Leu
ENST00000695618.1:c.*1550T>C	ENSP00000512058.1:n.*1550T>C
ENST00000695619.1:c.*1511T>C	ENSP00000512059.1:n.*1511T>C
ENST00000695620.1:c.*1727T>C	ENSP00000512060.1:n.*1727T>C
ENST00000695621.1:c.*226T>C	ENSP00000512061.1:n.*226T>C
ENST00000695622.1:c.1738T>C	ENSP00000512062.1:p.Phe580Leu
ENST00000695623.1:c.1795T>C	ENSP00000512063.1:p.Phe599Leu
ENST00000695624.1:n.1106T>C
ENST00000695625.1:c.1801T>C	ENSP00000512064.1:p.Phe601Leu
ENST00000695626.1:c.556T>C	ENSP00000512065.1:n.556T>C
ENST00000695627.1:c.749T>C	ENSP00000512066.1:n.749T>C
ENST00000695628.1:c.360T>C	ENSP00000512067.1:n.360T>C
ENST00000695629.1:c.241T>C	ENSP00000512068.1:p.Phe81Leu
ENST00000695630.1:c.528T>C
ENST00000695631.1:c.115-53T>C
ENST00000703407.1:c.1273T>C	ENSP00000512057.1:p.Phe425Leu
ENST00000308731.8:c.1801T>C MANE Select	ENSP00000308176.8:p.Phe601Leu
ENST00000308731.7:c.1801T>C	ENSP00000308176.7:p.Phe601Leu
ENST00000372880.5:c.1273T>C	ENSP00000361971.1:p.Phe425Leu
ENST00000470069.1:n.166T>C
ENST00000618050.4:c.1800T>C	ENSP00000479125.1:n.1800T>C
ENST00000621635.4:c.1903T>C	ENSP00000483570.1:p.Phe635Leu
NM_000061.2:c.1801T>C , LRG_128t1:c.1801T>C	NP_000052.1:p.Phe601Leu
NM_001287344.1:c.1903T>C	NP_001274273.1:p.Phe635Leu
NM_001287345.1:c.1273T>C	NP_001274274.1:p.Phe425Leu
NM_000061.3:c.1801T>C MANE Select	NP_000052.1:p.Phe601Leu
NM_001287344.2:c.1903T>C	NP_001274273.1:p.Phe635Leu
NM_001287345.2:c.1273T>C	NP_001274274.1:p.Phe425Leu