Canonical Allele Identifier: CA255839

Gene: BTK

Linked Data

• ClinVar Variation Id: 11386
• ClinVar RCV Id: RCV000012139 ; RCV003511979
• dbSNP Id: rs128621207
• MyVariant Identifiers: chrX:g.100608317G>T (hg19) ; chrX:g.101353329G>T (hg38)
• PubMed: PMID:7849697 ; PMID:9545398 ; PMID:11102984

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353329G>T , CM000685.2:g.101353329G>T	GRCh38
NC_000023.10:g.100608317G>T , CM000685.1:g.100608317G>T	GRCh37
NC_000023.9:g.100494973G>T	NCBI36
NG_009616.1:g.37896C>A , LRG_128:g.37896C>A
NG_011734.1:g.641C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.3290C>A
ENST00000488970.2:n.3929C>A
ENST00000695614.1:c.1773C>A	ENSP00000512053.1:p.Tyr591Ter
ENST00000695615.1:c.1773C>A	ENSP00000512054.1:p.Tyr591Ter
ENST00000695616.1:c.*1618C>A	ENSP00000512055.1:n.*1618C>A
ENST00000695617.1:c.1770C>A	ENSP00000512056.1:p.Tyr590Ter
ENST00000695618.1:c.*1522C>A	ENSP00000512058.1:n.*1522C>A
ENST00000695619.1:c.*1483C>A	ENSP00000512059.1:n.*1483C>A
ENST00000695620.1:c.*1699C>A	ENSP00000512060.1:n.*1699C>A
ENST00000695621.1:c.*198C>A	ENSP00000512061.1:n.*198C>A
ENST00000695622.1:c.1710C>A	ENSP00000512062.1:p.Tyr570Ter
ENST00000695623.1:c.1767C>A	ENSP00000512063.1:p.Tyr589Ter
ENST00000695624.1:n.1078C>A
ENST00000695625.1:c.1773C>A	ENSP00000512064.1:p.Tyr591Ter
ENST00000695626.1:c.528C>A	ENSP00000512065.1:n.528C>A
ENST00000695627.1:c.721C>A	ENSP00000512066.1:n.721C>A
ENST00000695628.1:c.332C>A	ENSP00000512067.1:n.332C>A
ENST00000695629.1:c.213C>A	ENSP00000512068.1:p.Tyr71Ter
ENST00000695630.1:c.500C>A
ENST00000695631.1:c.115-81C>A
ENST00000703407.1:c.1245C>A	ENSP00000512057.1:p.Tyr415Ter
ENST00000308731.8:c.1773C>A MANE Select	ENSP00000308176.8:p.Tyr591Ter
ENST00000308731.7:c.1773C>A	ENSP00000308176.7:p.Tyr591Ter
ENST00000372880.5:c.1245C>A	ENSP00000361971.1:p.Tyr415Ter
ENST00000470069.1:n.138C>A
ENST00000488970.1:n.375C>A
ENST00000618050.4:c.1772C>A	ENSP00000479125.1:n.1772C>A
ENST00000621635.4:c.1875C>A	ENSP00000483570.1:p.Tyr625Ter
NM_000061.2:c.1773C>A , LRG_128t1:c.1773C>A	NP_000052.1:p.Tyr591Ter
NM_001287344.1:c.1875C>A	NP_001274273.1:p.Tyr625Ter
NM_001287345.1:c.1245C>A	NP_001274274.1:p.Tyr415Ter
NM_000061.3:c.1773C>A MANE Select	NP_000052.1:p.Tyr591Ter
NM_001287344.2:c.1875C>A	NP_001274273.1:p.Tyr625Ter
NM_001287345.2:c.1245C>A	NP_001274274.1:p.Tyr415Ter