Canonical Allele Identifier: CA413918652

Gene: BTK

Linked Data

• MyVariant Identifiers: chrX:g.100608217T>G (hg19) ; chrX:g.101353229T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353229T>G , CM000685.2:g.101353229T>G	GRCh38
NC_000023.10:g.100608217T>G , CM000685.1:g.100608217T>G	GRCh37
NC_000023.9:g.100494873T>G	NCBI36
NG_009616.1:g.37996A>C , LRG_128:g.37996A>C
NG_011734.1:g.741A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.3390A>C
ENST00000488970.2:n.4029A>C
ENST00000695614.1:c.1873A>C	ENSP00000512053.1:p.Lys625Gln
ENST00000695615.1:c.1873A>C	ENSP00000512054.1:p.Lys625Gln
ENST00000695616.1:c.*1718A>C	ENSP00000512055.1:n.*1718A>C
ENST00000695617.1:c.1870A>C	ENSP00000512056.1:p.Lys624Gln
ENST00000695618.1:c.*1622A>C	ENSP00000512058.1:n.*1622A>C
ENST00000695619.1:c.*1583A>C	ENSP00000512059.1:n.*1583A>C
ENST00000695620.1:c.*1799A>C	ENSP00000512060.1:n.*1799A>C
ENST00000695621.1:c.*298A>C	ENSP00000512061.1:n.*298A>C
ENST00000695622.1:c.1810A>C	ENSP00000512062.1:p.Lys604Gln
ENST00000695623.1:c.1867A>C	ENSP00000512063.1:p.Lys623Gln
ENST00000695624.1:n.1178A>C
ENST00000695625.1:c.1873A>C	ENSP00000512064.1:p.Lys625Gln
ENST00000695626.1:c.628A>C	ENSP00000512065.1:n.628A>C
ENST00000695627.1:c.821A>C	ENSP00000512066.1:n.821A>C
ENST00000695628.1:c.432A>C	ENSP00000512067.1:n.432A>C
ENST00000695629.1:c.313A>C	ENSP00000512068.1:p.Lys105Gln
ENST00000695630.1:c.600A>C
ENST00000695631.1:c.134A>C
ENST00000703407.1:c.1345A>C	ENSP00000512057.1:p.Lys449Gln
ENST00000308731.8:c.1873A>C MANE Select	ENSP00000308176.8:p.Lys625Gln
ENST00000308731.7:c.1873A>C	ENSP00000308176.7:p.Lys625Gln
ENST00000372880.5:c.1345A>C	ENSP00000361971.1:p.Lys449Gln
ENST00000470069.1:n.238A>C
ENST00000618050.4:c.1872A>C	ENSP00000479125.1:n.1872A>C
ENST00000621635.4:c.1975A>C	ENSP00000483570.1:p.Lys659Gln
NM_000061.2:c.1873A>C , LRG_128t1:c.1873A>C	NP_000052.1:p.Lys625Gln
NM_001287344.1:c.1975A>C	NP_001274273.1:p.Lys659Gln
NM_001287345.1:c.1345A>C	NP_001274274.1:p.Lys449Gln
NM_000061.3:c.1873A>C MANE Select	NP_000052.1:p.Lys625Gln
NM_001287344.2:c.1975A>C	NP_001274273.1:p.Lys659Gln
NM_001287345.2:c.1345A>C	NP_001274274.1:p.Lys449Gln