Canonical Allele Identifier: CA413919608

Gene: BTK

Linked Data

• MyVariant Identifiers: chrX:g.100608334A>C (hg19) ; chrX:g.101353346A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353346A>C , CM000685.2:g.101353346A>C	GRCh38
NC_000023.10:g.100608334A>C , CM000685.1:g.100608334A>C	GRCh37
NC_000023.9:g.100494990A>C	NCBI36
NG_009616.1:g.37879T>G , LRG_128:g.37879T>G
NG_011734.1:g.624T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.3273T>G
ENST00000488970.2:n.3912T>G
ENST00000695614.1:c.1756T>G	ENSP00000512053.1:p.Leu586Val
ENST00000695615.1:c.1756T>G	ENSP00000512054.1:p.Leu586Val
ENST00000695616.1:c.*1601T>G	ENSP00000512055.1:n.*1601T>G
ENST00000695617.1:c.1753T>G	ENSP00000512056.1:p.Leu585Val
ENST00000695618.1:c.*1505T>G	ENSP00000512058.1:n.*1505T>G
ENST00000695619.1:c.*1466T>G	ENSP00000512059.1:n.*1466T>G
ENST00000695620.1:c.*1682T>G	ENSP00000512060.1:n.*1682T>G
ENST00000695621.1:c.*181T>G	ENSP00000512061.1:n.*181T>G
ENST00000695622.1:c.1693T>G	ENSP00000512062.1:p.Leu565Val
ENST00000695623.1:c.1750T>G	ENSP00000512063.1:p.Leu584Val
ENST00000695624.1:n.1061T>G
ENST00000695625.1:c.1756T>G	ENSP00000512064.1:p.Leu586Val
ENST00000695626.1:c.511T>G	ENSP00000512065.1:n.511T>G
ENST00000695627.1:c.704T>G	ENSP00000512066.1:n.704T>G
ENST00000695628.1:c.315T>G	ENSP00000512067.1:n.315T>G
ENST00000695629.1:c.196T>G	ENSP00000512068.1:p.Leu66Val
ENST00000695630.1:c.483T>G
ENST00000695631.1:c.115-98T>G
ENST00000703407.1:c.1228T>G	ENSP00000512057.1:p.Leu410Val
ENST00000308731.8:c.1756T>G MANE Select	ENSP00000308176.8:p.Leu586Val
ENST00000308731.7:c.1756T>G	ENSP00000308176.7:p.Leu586Val
ENST00000372880.5:c.1228T>G	ENSP00000361971.1:p.Leu410Val
ENST00000470069.1:n.121T>G
ENST00000488970.1:n.358T>G
ENST00000618050.4:c.1755T>G	ENSP00000479125.1:n.1755T>G
ENST00000621635.4:c.1858T>G	ENSP00000483570.1:p.Leu620Val
NM_000061.2:c.1756T>G , LRG_128t1:c.1756T>G	NP_000052.1:p.Leu586Val
NM_001287344.1:c.1858T>G	NP_001274273.1:p.Leu620Val
NM_001287345.1:c.1228T>G	NP_001274274.1:p.Leu410Val
NM_000061.3:c.1756T>G MANE Select	NP_000052.1:p.Leu586Val
NM_001287344.2:c.1858T>G	NP_001274273.1:p.Leu620Val
NM_001287345.2:c.1228T>G	NP_001274274.1:p.Leu410Val