Canonical Allele Identifier: CA255848
Gene: BTK HGNC NCBI

Linked Data

ClinVar Variation Id: 11390
ClinVar RCV Id: RCV000012143
dbSNP Id: rs128622211

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101353196C>A , CM000685.2:g.101353196C>A GRCh38
NC_000023.10:g.100608184C>A , CM000685.1:g.100608184C>A GRCh37
NC_000023.9:g.100494840C>A NCBI36
NG_009616.1:g.38029G>T , LRG_128:g.38029G>T
NG_011734.1:g.774G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000478995.2:n.3423G>T
ENST00000488970.2:n.4062G>T
ENST00000695614.1:c.1906G>T ENSP00000512053.1:p.Glu636Ter
ENST00000695615.1:c.1906G>T ENSP00000512054.1:p.Glu636Ter
ENST00000695616.1:c.*1751G>T ENSP00000512055.1:n.*1751G>T
ENST00000695617.1:c.1903G>T ENSP00000512056.1:p.Glu635Ter
ENST00000695618.1:c.*1655G>T ENSP00000512058.1:n.*1655G>T
ENST00000695619.1:c.*1616G>T ENSP00000512059.1:n.*1616G>T
ENST00000695620.1:c.*1832G>T ENSP00000512060.1:n.*1832G>T
ENST00000695621.1:c.*331G>T ENSP00000512061.1:n.*331G>T
ENST00000695622.1:c.1843G>T ENSP00000512062.1:p.Glu615Ter
ENST00000695623.1:c.1900G>T ENSP00000512063.1:p.Glu634Ter
ENST00000695624.1:n.1211G>T
ENST00000695625.1:c.1875+31G>T ENSP00000512064.1:n.1875+31G>T
ENST00000695626.1:c.661G>T ENSP00000512065.1:n.661G>T
ENST00000695627.1:c.854G>T ENSP00000512066.1:n.854G>T
ENST00000695628.1:c.465G>T ENSP00000512067.1:n.465G>T
ENST00000695629.1:c.346G>T ENSP00000512068.1:p.Glu116Ter
ENST00000695630.1:c.633G>T
ENST00000695631.1:c.167G>T
ENST00000703407.1:c.1378G>T ENSP00000512057.1:p.Glu460Ter
ENST00000308731.8:c.1906G>T MANE Select ENSP00000308176.8:p.Glu636Ter
ENST00000308731.7:c.1906G>T ENSP00000308176.7:p.Glu636Ter
ENST00000372880.5:c.1378G>T ENSP00000361971.1:p.Glu460Ter
ENST00000470069.1:n.271G>T
ENST00000618050.4:c.1905G>T ENSP00000479125.1:n.1905G>T
ENST00000621635.4:c.2008G>T ENSP00000483570.1:p.Glu670Ter
NM_000061.2:c.1906G>T , LRG_128t1:c.1906G>T NP_000052.1:p.Glu636Ter
NM_001287344.1:c.2008G>T NP_001274273.1:p.Glu670Ter
NM_001287345.1:c.1378G>T NP_001274274.1:p.Glu460Ter
NM_000061.3:c.1906G>T MANE Select NP_000052.1:p.Glu636Ter
NM_001287344.2:c.2008G>T NP_001274273.1:p.Glu670Ter
NM_001287345.2:c.1378G>T NP_001274274.1:p.Glu460Ter