Canonical Allele Identifier: CA413922981

Gene: BTK

Linked Data

• ClinVar Variation Id: 2035116
• ClinVar RCV Id: RCV002889876
• MyVariant Identifiers: chrX:g.100611050T>G (hg19) ; chrX:g.101356062T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101356062T>G , CM000685.2:g.101356062T>G	GRCh38
NC_000023.10:g.100611050T>G , CM000685.1:g.100611050T>G	GRCh37
NC_000023.9:g.100497706T>G	NCBI36
NG_009616.1:g.35163A>C , LRG_128:g.35163A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000478995.2:n.1716A>C
ENST00000488970.2:n.1714A>C
ENST00000695614.1:c.1556A>C	ENSP00000512053.1:p.His519Pro
ENST00000695615.1:c.1556A>C	ENSP00000512054.1:p.His519Pro
ENST00000695616.1:c.*1401A>C	ENSP00000512055.1:n.*1401A>C
ENST00000695617.1:c.1553A>C	ENSP00000512056.1:p.His518Pro
ENST00000695618.1:c.*1305A>C	ENSP00000512058.1:n.*1305A>C
ENST00000695619.1:c.*1266A>C	ENSP00000512059.1:n.*1266A>C
ENST00000695620.1:c.*1482A>C	ENSP00000512060.1:n.*1482A>C
ENST00000695621.1:c.1556A>C	ENSP00000512061.1:p.His519Pro
ENST00000695622.1:c.1493A>C	ENSP00000512062.1:p.His498Pro
ENST00000695623.1:c.1550A>C	ENSP00000512063.1:p.His517Pro
ENST00000695624.1:n.861A>C
ENST00000695625.1:c.1556A>C	ENSP00000512064.1:p.His519Pro
ENST00000695626.1:c.321+722A>C	ENSP00000512065.1:n.321+722A>C
ENST00000695627.1:c.569A>C	ENSP00000512066.1:p.His190Pro
ENST00000695628.1:c.190+1447A>C	ENSP00000512067.1:n.190+1447A>C
ENST00000695629.1:c.190+1447A>C	ENSP00000512068.1:n.190+1447A>C
ENST00000695630.1:c.358+722A>C
ENST00000695631.1:c.114+2248A>C
ENST00000695632.1:n.366+722A>C
ENST00000703407.1:c.1039-1368A>C	ENSP00000512057.1:n.1039-1368A>C
ENST00000308731.8:c.1556A>C MANE Select	ENSP00000308176.8:p.His519Pro
ENST00000308731.7:c.1556A>C	ENSP00000308176.7:p.His519Pro
ENST00000372880.5:c.1039-1368A>C	ENSP00000361971.1:n.1039-1368A>C
ENST00000478995.1:n.228A>C
ENST00000618050.4:c.1556A>C	ENSP00000479125.1:p.His519Pro
ENST00000621635.4:c.1658A>C	ENSP00000483570.1:p.His553Pro
NM_000061.2:c.1556A>C , LRG_128t1:c.1556A>C	NP_000052.1:p.His519Pro
NM_001287344.1:c.1658A>C	NP_001274273.1:p.His553Pro
NM_001287345.1:c.1039-1368A>C	NP_001274274.1:n.1039-1368A>C
NM_000061.3:c.1556A>C MANE Select	NP_000052.1:p.His519Pro
NM_001287344.2:c.1658A>C	NP_001274273.1:p.His553Pro
NM_001287345.2:c.1039-1368A>C	NP_001274274.1:n.1039-1368A>C