Canonical Allele Identifier: CA413923482

Gene: BTK

Linked Data

• dbSNP Id: rs2147427266
• MyVariant Identifiers: chrX:g.100611087C>G (hg19) ; chrX:g.101356099C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101356099C>G , CM000685.2:g.101356099C>G	GRCh38
NC_000023.10:g.100611087C>G , CM000685.1:g.100611087C>G	GRCh37
NC_000023.9:g.100497743C>G	NCBI36
NG_009616.1:g.35126G>C , LRG_128:g.35126G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.1679G>C
ENST00000488970.2:n.1677G>C
ENST00000695614.1:c.1519G>C	ENSP00000512053.1:p.Glu507Gln
ENST00000695615.1:c.1519G>C	ENSP00000512054.1:p.Glu507Gln
ENST00000695616.1:c.*1364G>C	ENSP00000512055.1:n.*1364G>C
ENST00000695617.1:c.1516G>C	ENSP00000512056.1:p.Glu506Gln
ENST00000695618.1:c.*1268G>C	ENSP00000512058.1:n.*1268G>C
ENST00000695619.1:c.*1229G>C	ENSP00000512059.1:n.*1229G>C
ENST00000695620.1:c.*1445G>C	ENSP00000512060.1:n.*1445G>C
ENST00000695621.1:c.1519G>C	ENSP00000512061.1:p.Glu507Gln
ENST00000695622.1:c.1456G>C	ENSP00000512062.1:p.Glu486Gln
ENST00000695623.1:c.1513G>C	ENSP00000512063.1:p.Glu505Gln
ENST00000695624.1:n.824G>C
ENST00000695625.1:c.1519G>C	ENSP00000512064.1:p.Glu507Gln
ENST00000695626.1:c.321+685G>C	ENSP00000512065.1:n.321+685G>C
ENST00000695627.1:c.532G>C	ENSP00000512066.1:p.Glu178Gln
ENST00000695628.1:c.190+1410G>C	ENSP00000512067.1:n.190+1410G>C
ENST00000695629.1:c.190+1410G>C	ENSP00000512068.1:n.190+1410G>C
ENST00000695630.1:c.358+685G>C
ENST00000695631.1:c.114+2211G>C
ENST00000695632.1:n.366+685G>C
ENST00000703407.1:c.1039-1405G>C	ENSP00000512057.1:n.1039-1405G>C
ENST00000308731.8:c.1519G>C MANE Select	ENSP00000308176.8:p.Glu507Gln
ENST00000308731.7:c.1519G>C	ENSP00000308176.7:p.Glu507Gln
ENST00000372880.5:c.1039-1405G>C	ENSP00000361971.1:n.1039-1405G>C
ENST00000478995.1:n.191G>C
ENST00000618050.4:c.1519G>C	ENSP00000479125.1:p.Glu507Gln
ENST00000621635.4:c.1621G>C	ENSP00000483570.1:p.Glu541Gln
NM_000061.2:c.1519G>C , LRG_128t1:c.1519G>C	NP_000052.1:p.Glu507Gln
NM_001287344.1:c.1621G>C	NP_001274273.1:p.Glu541Gln
NM_001287345.1:c.1039-1405G>C	NP_001274274.1:n.1039-1405G>C
NM_000061.3:c.1519G>C MANE Select	NP_000052.1:p.Glu507Gln
NM_001287344.2:c.1621G>C	NP_001274273.1:p.Glu541Gln
NM_001287345.2:c.1039-1405G>C	NP_001274274.1:n.1039-1405G>C