Canonical Allele Identifier: CA10473013

Gene: BTK

Linked Data

• ClinVar Variation Id: 2896508
• ClinVar RCV Id: RCV003624252
• dbSNP Id: rs192689502
• ExAC: X:100611067 C / T
• gnomAD v2: X-100611067-C-T
• gnomAD v3: X-101356079-C-T
• gnomAD v4: X-101356079-C-T
• MyVariant Identifiers: chrX:g.100611067C>T (hg19) ; chrX:g.101356079C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101356079C>T , CM000685.2:g.101356079C>T	GRCh38
NC_000023.10:g.100611067C>T , CM000685.1:g.100611067C>T	GRCh37
NC_000023.9:g.100497723C>T	NCBI36
NG_009616.1:g.35146G>A , LRG_128:g.35146G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.1699G>A
ENST00000488970.2:n.1697G>A
ENST00000695614.1:c.1539G>A	ENSP00000512053.1:p.Glu513=
ENST00000695615.1:c.1539G>A	ENSP00000512054.1:p.Glu513=
ENST00000695616.1:c.*1384G>A	ENSP00000512055.1:n.*1384G>A
ENST00000695617.1:c.1536G>A	ENSP00000512056.1:p.Glu512=
ENST00000695618.1:c.*1288G>A	ENSP00000512058.1:n.*1288G>A
ENST00000695619.1:c.*1249G>A	ENSP00000512059.1:n.*1249G>A
ENST00000695620.1:c.*1465G>A	ENSP00000512060.1:n.*1465G>A
ENST00000695621.1:c.1539G>A	ENSP00000512061.1:p.Glu513=
ENST00000695622.1:c.1476G>A	ENSP00000512062.1:p.Glu492=
ENST00000695623.1:c.1533G>A	ENSP00000512063.1:p.Glu511=
ENST00000695624.1:n.844G>A
ENST00000695625.1:c.1539G>A	ENSP00000512064.1:p.Glu513=
ENST00000695626.1:c.321+705G>A	ENSP00000512065.1:n.321+705G>A
ENST00000695627.1:c.552G>A	ENSP00000512066.1:p.Glu184=
ENST00000695628.1:c.190+1430G>A	ENSP00000512067.1:n.190+1430G>A
ENST00000695629.1:c.190+1430G>A	ENSP00000512068.1:n.190+1430G>A
ENST00000695630.1:c.358+705G>A
ENST00000695631.1:c.114+2231G>A
ENST00000695632.1:n.366+705G>A
ENST00000703407.1:c.1039-1385G>A	ENSP00000512057.1:n.1039-1385G>A
ENST00000308731.8:c.1539G>A MANE Select	ENSP00000308176.8:p.Glu513=
ENST00000308731.7:c.1539G>A	ENSP00000308176.7:p.Glu513=
ENST00000372880.5:c.1039-1385G>A	ENSP00000361971.1:n.1039-1385G>A
ENST00000478995.1:n.211G>A
ENST00000618050.4:c.1539G>A	ENSP00000479125.1:p.Glu513=
ENST00000621635.4:c.1641G>A	ENSP00000483570.1:p.Glu547=
NM_000061.2:c.1539G>A , LRG_128t1:c.1539G>A	NP_000052.1:p.Glu513=
NM_001287344.1:c.1641G>A	NP_001274273.1:p.Glu547=
NM_001287345.1:c.1039-1385G>A	NP_001274274.1:n.1039-1385G>A
NM_000061.3:c.1539G>A MANE Select	NP_000052.1:p.Glu513=
NM_001287344.2:c.1641G>A	NP_001274273.1:p.Glu547=
NM_001287345.2:c.1039-1385G>A	NP_001274274.1:n.1039-1385G>A