Canonical Allele Identifier: CA413920283

Gene: BTK

Linked Data

• MyVariant Identifiers: chrX:g.100608899A>T (hg19) ; chrX:g.101353911A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353911A>T , CM000685.2:g.101353911A>T	GRCh38
NC_000023.10:g.100608899A>T , CM000685.1:g.100608899A>T	GRCh37
NC_000023.9:g.100495555A>T	NCBI36
NG_009616.1:g.37314T>A , LRG_128:g.37314T>A
NG_011734.1:g.59T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.3226T>A
ENST00000488970.2:n.3865T>A
ENST00000695614.1:c.1709T>A	ENSP00000512053.1:p.Met570Lys
ENST00000695615.1:c.1709T>A	ENSP00000512054.1:p.Met570Lys
ENST00000695616.1:c.*1554T>A	ENSP00000512055.1:n.*1554T>A
ENST00000695617.1:c.1706T>A	ENSP00000512056.1:p.Met569Lys
ENST00000695618.1:c.*1458T>A	ENSP00000512058.1:n.*1458T>A
ENST00000695619.1:c.*1419T>A	ENSP00000512059.1:n.*1419T>A
ENST00000695620.1:c.*1635T>A	ENSP00000512060.1:n.*1635T>A
ENST00000695621.1:c.*134T>A	ENSP00000512061.1:n.*134T>A
ENST00000695622.1:c.1646T>A	ENSP00000512062.1:p.Met549Lys
ENST00000695623.1:c.1703T>A	ENSP00000512063.1:p.Met568Lys
ENST00000695624.1:n.1014T>A
ENST00000695625.1:c.1709T>A	ENSP00000512064.1:p.Met570Lys
ENST00000695626.1:c.464T>A	ENSP00000512065.1:n.464T>A
ENST00000695627.1:c.657T>A	ENSP00000512066.1:n.657T>A
ENST00000695628.1:c.268T>A	ENSP00000512067.1:n.268T>A
ENST00000695629.1:c.191-560T>A	ENSP00000512068.1:n.191-560T>A
ENST00000695630.1:c.436T>A
ENST00000695631.1:c.115-663T>A
ENST00000695632.1:n.509T>A
ENST00000703407.1:c.1181T>A	ENSP00000512057.1:p.Met394Lys
ENST00000308731.8:c.1709T>A MANE Select	ENSP00000308176.8:p.Met570Lys
ENST00000308731.7:c.1709T>A	ENSP00000308176.7:p.Met570Lys
ENST00000372880.5:c.1181T>A	ENSP00000361971.1:p.Met394Lys
ENST00000470069.1:n.74T>A
ENST00000488970.1:n.311T>A
ENST00000618050.4:c.1708T>A	ENSP00000479125.1:n.1708T>A
ENST00000621635.4:c.1811T>A	ENSP00000483570.1:p.Met604Lys
NM_000061.2:c.1709T>A , LRG_128t1:c.1709T>A	NP_000052.1:p.Met570Lys
NM_001287344.1:c.1811T>A	NP_001274273.1:p.Met604Lys
NM_001287345.1:c.1181T>A	NP_001274274.1:p.Met394Lys
NM_000061.3:c.1709T>A MANE Select	NP_000052.1:p.Met570Lys
NM_001287344.2:c.1811T>A	NP_001274273.1:p.Met604Lys
NM_001287345.2:c.1181T>A	NP_001274274.1:p.Met394Lys