Canonical Allele Identifier: CA10473046

Gene: BTK

Linked Data

• ClinVar Variation Id: 940214
• ClinVar RCV Id: RCV001209751
• dbSNP Id: rs782429199
• ExAC: X:100612498 G / A
• gnomAD v2: X-100612498-G-A
• gnomAD v3: X-101357510-G-A
• gnomAD v4: X-101357510-G-A
• MyVariant Identifiers: chrX:g.100612498G>A (hg19) ; chrX:g.101357510G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101357510G>A , CM000685.2:g.101357510G>A	GRCh38
NC_000023.10:g.100612498G>A , CM000685.1:g.100612498G>A	GRCh37
NC_000023.9:g.100499154G>A	NCBI36
NG_009616.1:g.33715C>T , LRG_128:g.33715C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000478995.2:n.1336C>T
ENST00000488970.2:n.1334C>T
ENST00000695614.1:c.1176C>T	ENSP00000512053.1:p.Tyr392=
ENST00000695615.1:c.1176C>T	ENSP00000512054.1:p.Tyr392=
ENST00000695616.1:c.*1021C>T	ENSP00000512055.1:n.*1021C>T
ENST00000695617.1:c.1173C>T	ENSP00000512056.1:p.Tyr391=
ENST00000695618.1:c.*925C>T	ENSP00000512058.1:n.*925C>T
ENST00000695619.1:c.*886C>T	ENSP00000512059.1:n.*886C>T
ENST00000695620.1:c.*1021C>T	ENSP00000512060.1:n.*1021C>T
ENST00000695621.1:c.1176C>T	ENSP00000512061.1:p.Tyr392=
ENST00000695622.1:c.1113C>T	ENSP00000512062.1:p.Tyr371=
ENST00000695623.1:c.1170C>T	ENSP00000512063.1:p.Tyr390=
ENST00000695624.1:n.481C>T
ENST00000695625.1:c.1176C>T	ENSP00000512064.1:p.Tyr392=
ENST00000695626.1:c.189C>T	ENSP00000512065.1:p.Tyr63=
ENST00000695627.1:c.189C>T	ENSP00000512066.1:p.Tyr63=
ENST00000695628.1:c.189C>T	ENSP00000512067.1:p.Tyr63=
ENST00000695629.1:c.189C>T	ENSP00000512068.1:p.Tyr63=
ENST00000695630.1:c.185C>T
ENST00000695631.1:c.114+800C>T
ENST00000695632.1:n.193C>T
ENST00000703407.1:c.1038+864C>T	ENSP00000512057.1:n.1038+864C>T
ENST00000308731.8:c.1176C>T MANE Select	ENSP00000308176.8:p.Tyr392=
ENST00000308731.7:c.1176C>T	ENSP00000308176.7:p.Tyr392=
ENST00000372880.5:c.1038+864C>T	ENSP00000361971.1:n.1038+864C>T
ENST00000470329.1:n.126C>T
ENST00000618050.4:c.1176C>T	ENSP00000479125.1:p.Tyr392=
ENST00000621635.4:c.1278C>T	ENSP00000483570.1:p.Tyr426=
NM_000061.2:c.1176C>T , LRG_128t1:c.1176C>T	NP_000052.1:p.Tyr392=
NM_001287344.1:c.1278C>T	NP_001274273.1:p.Tyr426=
NM_001287345.1:c.1038+864C>T	NP_001274274.1:n.1038+864C>T
NM_000061.3:c.1176C>T MANE Select	NP_000052.1:p.Tyr392=
NM_001287344.2:c.1278C>T	NP_001274273.1:p.Tyr426=
NM_001287345.2:c.1038+864C>T	NP_001274274.1:n.1038+864C>T