Canonical Allele Identifier: CA10472960

Gene: BTK

Linked Data

• ClinVar Variation Id: 254784
• ClinVar RCV Id: RCV000254181 ; RCV000343690 ; RCV000407074 ; RCV003114414
• dbSNP Id: rs1135363
• ExAC: X:100608191 G / A
• gnomAD v2: X-100608191-G-A
• gnomAD v3: X-101353203-G-A
• gnomAD v4: X-101353203-G-A
• COSMIC: COSM5009505
• MyVariant Identifiers: chrX:g.100608191G>A (hg19) ; chrX:g.101353203G>A (hg38)
• PubMed: PMID:8162056 ; PMID:17045652 ; PMID:24885015

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353203G>A , CM000685.2:g.101353203G>A	GRCh38
NC_000023.10:g.100608191G>A , CM000685.1:g.100608191G>A	GRCh37
NC_000023.9:g.100494847G>A	NCBI36
NG_009616.1:g.38022C>T , LRG_128:g.38022C>T
NG_011734.1:g.767C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000478995.2:n.3416C>T
ENST00000488970.2:n.4055C>T
ENST00000695614.1:c.1899C>T	ENSP00000512053.1:p.Cys633=
ENST00000695615.1:c.1899C>T	ENSP00000512054.1:p.Cys633=
ENST00000695616.1:c.*1744C>T	ENSP00000512055.1:n.*1744C>T
ENST00000695617.1:c.1896C>T	ENSP00000512056.1:p.Cys632=
ENST00000695618.1:c.*1648C>T	ENSP00000512058.1:n.*1648C>T
ENST00000695619.1:c.*1609C>T	ENSP00000512059.1:n.*1609C>T
ENST00000695620.1:c.*1825C>T	ENSP00000512060.1:n.*1825C>T
ENST00000695621.1:c.*324C>T	ENSP00000512061.1:n.*324C>T
ENST00000695622.1:c.1836C>T	ENSP00000512062.1:p.Cys612=
ENST00000695623.1:c.1893C>T	ENSP00000512063.1:p.Cys631=
ENST00000695624.1:n.1204C>T
ENST00000695625.1:c.1875+24C>T	ENSP00000512064.1:n.1875+24C>T
ENST00000695626.1:c.654C>T	ENSP00000512065.1:n.654C>T
ENST00000695627.1:c.847C>T	ENSP00000512066.1:n.847C>T
ENST00000695628.1:c.458C>T	ENSP00000512067.1:n.458C>T
ENST00000695629.1:c.339C>T	ENSP00000512068.1:p.Cys113=
ENST00000695630.1:c.626C>T
ENST00000695631.1:c.160C>T
ENST00000703407.1:c.1371C>T	ENSP00000512057.1:p.Cys457=
ENST00000308731.8:c.1899C>T MANE Select	ENSP00000308176.8:p.Cys633=
ENST00000308731.7:c.1899C>T	ENSP00000308176.7:p.Cys633=
ENST00000372880.5:c.1371C>T	ENSP00000361971.1:p.Cys457=
ENST00000470069.1:n.264C>T
ENST00000618050.4:c.1898C>T	ENSP00000479125.1:n.1898C>T
ENST00000621635.4:c.2001C>T	ENSP00000483570.1:p.Cys667=
NM_000061.2:c.1899C>T , LRG_128t1:c.1899C>T	NP_000052.1:p.Cys633=
NM_001287344.1:c.2001C>T	NP_001274273.1:p.Cys667=
NM_001287345.1:c.1371C>T	NP_001274274.1:p.Cys457=
NM_000061.3:c.1899C>T MANE Select	NP_000052.1:p.Cys633=
NM_001287344.2:c.2001C>T	NP_001274273.1:p.Cys667=
NM_001287345.2:c.1371C>T	NP_001274274.1:p.Cys457=