Canonical Allele Identifier: CA2738824284
Gene: BTK HGNC NCBI

Linked Data

dbSNP Id: rs2147425920

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101354742T>C , CM000685.2:g.101354742T>C GRCh38
NC_000023.10:g.100609730T>C , CM000685.1:g.100609730T>C GRCh37
NC_000023.9:g.100496386T>C NCBI36
NG_009616.1:g.36483A>G , LRG_128:g.36483A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000478995.2:n.3036A>G
ENST00000488970.2:n.3034A>G
ENST00000695614.1:c.1567-48A>G ENSP00000512053.1:n.1567-48A>G
ENST00000695615.1:c.1567-48A>G ENSP00000512054.1:n.1567-48A>G
ENST00000695616.1:c.*1412-48A>G ENSP00000512055.1:n.*1412-48A>G
ENST00000695617.1:c.1564-48A>G ENSP00000512056.1:n.1564-48A>G
ENST00000695618.1:c.*1316-48A>G ENSP00000512058.1:n.*1316-48A>G
ENST00000695619.1:c.*1277-48A>G ENSP00000512059.1:n.*1277-48A>G
ENST00000695620.1:c.*1493-48A>G ENSP00000512060.1:n.*1493-48A>G
ENST00000695621.1:c.1567-48A>G ENSP00000512061.1:n.1567-48A>G
ENST00000695622.1:c.1504-48A>G ENSP00000512062.1:n.1504-48A>G
ENST00000695623.1:c.1561-48A>G ENSP00000512063.1:n.1561-48A>G
ENST00000695624.1:n.872-48A>G
ENST00000695625.1:c.1567-48A>G ENSP00000512064.1:n.1567-48A>G
ENST00000695626.1:c.322-48A>G ENSP00000512065.1:n.322-48A>G
ENST00000695627.1:c.580-754A>G ENSP00000512066.1:n.580-754A>G
ENST00000695628.1:c.191-754A>G ENSP00000512067.1:n.191-754A>G
ENST00000695629.1:c.191-1391A>G ENSP00000512068.1:n.191-1391A>G
ENST00000695630.1:c.359-754A>G
ENST00000695631.1:c.115-1494A>G
ENST00000695632.1:n.367-48A>G
ENST00000703407.1:c.1039-48A>G ENSP00000512057.1:n.1039-48A>G
ENST00000308731.8:c.1567-48A>G MANE Select ENSP00000308176.8:n.1567-48A>G
ENST00000308731.7:c.1567-48A>G ENSP00000308176.7:n.1567-48A>G
ENST00000372880.5:c.1039-48A>G ENSP00000361971.1:n.1039-48A>G
ENST00000618050.4:c.1567-48A>G ENSP00000479125.1:n.1567-48A>G
ENST00000621635.4:c.1669-48A>G ENSP00000483570.1:n.1669-48A>G
NM_000061.2:c.1567-48A>G , LRG_128t1:c.1567-48A>G NP_000052.1:n.1567-48A>G
NM_001287344.1:c.1669-48A>G NP_001274273.1:n.1669-48A>G
NM_001287345.1:c.1039-48A>G NP_001274274.1:n.1039-48A>G
NM_000061.3:c.1567-48A>G MANE Select NP_000052.1:n.1567-48A>G
NM_001287344.2:c.1669-48A>G NP_001274273.1:n.1669-48A>G
NM_001287345.2:c.1039-48A>G NP_001274274.1:n.1039-48A>G