Canonical Allele Identifier: CA413925105

Gene: BTK

Linked Data

• MyVariant Identifiers: chrX:g.100611845C>G (hg19) ; chrX:g.101356857C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101356857C>G , CM000685.2:g.101356857C>G	GRCh38
NC_000023.10:g.100611845C>G , CM000685.1:g.100611845C>G	GRCh37
NC_000023.9:g.100498501C>G	NCBI36
NG_009616.1:g.34368G>C , LRG_128:g.34368G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000478995.2:n.1436G>C
ENST00000488970.2:n.1434G>C
ENST00000695614.1:c.1276G>C	ENSP00000512053.1:p.Asp426His
ENST00000695615.1:c.1276G>C	ENSP00000512054.1:p.Asp426His
ENST00000695616.1:c.*1121G>C	ENSP00000512055.1:n.*1121G>C
ENST00000695617.1:c.1273G>C	ENSP00000512056.1:p.Asp425His
ENST00000695618.1:c.*1025G>C	ENSP00000512058.1:n.*1025G>C
ENST00000695619.1:c.*986G>C	ENSP00000512059.1:n.*986G>C
ENST00000695620.1:c.*1121G>C	ENSP00000512060.1:n.*1121G>C
ENST00000695621.1:c.1276G>C	ENSP00000512061.1:p.Asp426His
ENST00000695622.1:c.1213G>C	ENSP00000512062.1:p.Asp405His
ENST00000695623.1:c.1270G>C	ENSP00000512063.1:p.Asp424His
ENST00000695624.1:n.581G>C
ENST00000695625.1:c.1276G>C	ENSP00000512064.1:p.Asp426His
ENST00000695626.1:c.248G>C	ENSP00000512065.1:p.Arg83Pro
ENST00000695627.1:c.289G>C	ENSP00000512066.1:p.Asp97His
ENST00000695628.1:c.190+652G>C	ENSP00000512067.1:n.190+652G>C
ENST00000695629.1:c.190+652G>C	ENSP00000512068.1:n.190+652G>C
ENST00000695630.1:c.285G>C
ENST00000695631.1:c.114+1453G>C
ENST00000695632.1:n.293G>C
ENST00000703407.1:c.1038+1517G>C	ENSP00000512057.1:n.1038+1517G>C
ENST00000308731.8:c.1276G>C MANE Select	ENSP00000308176.8:p.Asp426His
ENST00000308731.7:c.1276G>C	ENSP00000308176.7:p.Asp426His
ENST00000372880.5:c.1038+1517G>C	ENSP00000361971.1:n.1038+1517G>C
ENST00000470329.1:n.226G>C
ENST00000618050.4:c.1276G>C	ENSP00000479125.1:p.Asp426His
ENST00000621635.4:c.1378G>C	ENSP00000483570.1:p.Asp460His
NM_000061.2:c.1276G>C , LRG_128t1:c.1276G>C	NP_000052.1:p.Asp426His
NM_001287344.1:c.1378G>C	NP_001274273.1:p.Asp460His
NM_001287345.1:c.1038+1517G>C	NP_001274274.1:n.1038+1517G>C
NM_000061.3:c.1276G>C MANE Select	NP_000052.1:p.Asp426His
NM_001287344.2:c.1378G>C	NP_001274273.1:p.Asp460His
NM_001287345.2:c.1038+1517G>C	NP_001274274.1:n.1038+1517G>C