Canonical Allele Identifier: CA413923016

Gene: BTK

Linked Data

• ClinVar Variation Id: 2138647
• ClinVar RCV Id: RCV003050635
• MyVariant Identifiers: chrX:g.100611053A>C (hg19) ; chrX:g.101356065A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101356065A>C , CM000685.2:g.101356065A>C	GRCh38
NC_000023.10:g.100611053A>C , CM000685.1:g.100611053A>C	GRCh37
NC_000023.9:g.100497709A>C	NCBI36
NG_009616.1:g.35160T>G , LRG_128:g.35160T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000478995.2:n.1713T>G
ENST00000488970.2:n.1711T>G
ENST00000695614.1:c.1553T>G	ENSP00000512053.1:p.Leu518Arg
ENST00000695615.1:c.1553T>G	ENSP00000512054.1:p.Leu518Arg
ENST00000695616.1:c.*1398T>G	ENSP00000512055.1:n.*1398T>G
ENST00000695617.1:c.1550T>G	ENSP00000512056.1:p.Leu517Arg
ENST00000695618.1:c.*1302T>G	ENSP00000512058.1:n.*1302T>G
ENST00000695619.1:c.*1263T>G	ENSP00000512059.1:n.*1263T>G
ENST00000695620.1:c.*1479T>G	ENSP00000512060.1:n.*1479T>G
ENST00000695621.1:c.1553T>G	ENSP00000512061.1:p.Leu518Arg
ENST00000695622.1:c.1490T>G	ENSP00000512062.1:p.Leu497Arg
ENST00000695623.1:c.1547T>G	ENSP00000512063.1:p.Leu516Arg
ENST00000695624.1:n.858T>G
ENST00000695625.1:c.1553T>G	ENSP00000512064.1:p.Leu518Arg
ENST00000695626.1:c.321+719T>G	ENSP00000512065.1:n.321+719T>G
ENST00000695627.1:c.566T>G	ENSP00000512066.1:p.Leu189Arg
ENST00000695628.1:c.190+1444T>G	ENSP00000512067.1:n.190+1444T>G
ENST00000695629.1:c.190+1444T>G	ENSP00000512068.1:n.190+1444T>G
ENST00000695630.1:c.358+719T>G
ENST00000695631.1:c.114+2245T>G
ENST00000695632.1:n.366+719T>G
ENST00000703407.1:c.1039-1371T>G	ENSP00000512057.1:n.1039-1371T>G
ENST00000308731.8:c.1553T>G MANE Select	ENSP00000308176.8:p.Leu518Arg
ENST00000308731.7:c.1553T>G	ENSP00000308176.7:p.Leu518Arg
ENST00000372880.5:c.1039-1371T>G	ENSP00000361971.1:n.1039-1371T>G
ENST00000478995.1:n.225T>G
ENST00000618050.4:c.1553T>G	ENSP00000479125.1:p.Leu518Arg
ENST00000621635.4:c.1655T>G	ENSP00000483570.1:p.Leu552Arg
NM_000061.2:c.1553T>G , LRG_128t1:c.1553T>G	NP_000052.1:p.Leu518Arg
NM_001287344.1:c.1655T>G	NP_001274273.1:p.Leu552Arg
NM_001287345.1:c.1039-1371T>G	NP_001274274.1:n.1039-1371T>G
NM_000061.3:c.1553T>G MANE Select	NP_000052.1:p.Leu518Arg
NM_001287344.2:c.1655T>G	NP_001274273.1:p.Leu552Arg
NM_001287345.2:c.1039-1371T>G	NP_001274274.1:n.1039-1371T>G