Canonical Allele Identifier: CA658394333

Gene: BTK

Linked Data

• dbSNP Id: rs1432466727
• gnomAD v3: X-101355976-C-G
• gnomAD v4: X-101355976-C-G
• COSMIC: COSN7678975
• MyVariant Identifiers: chrX:g.101355976C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101355976C>G , CM000685.2:g.101355976C>G	GRCh38
NC_000023.10:g.100610964C>G , CM000685.1:g.100610964C>G	GRCh37
NC_000023.9:g.100497620C>G	NCBI36
NG_009616.1:g.35249G>C , LRG_128:g.35249G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000478995.2:n.1802G>C
ENST00000488970.2:n.1800G>C
ENST00000695614.1:c.1566+76G>C	ENSP00000512053.1:n.1566+76G>C
ENST00000695615.1:c.1566+76G>C	ENSP00000512054.1:n.1566+76G>C
ENST00000695616.1:c.*1411+76G>C	ENSP00000512055.1:n.*1411+76G>C
ENST00000695617.1:c.1563+76G>C	ENSP00000512056.1:n.1563+76G>C
ENST00000695618.1:c.*1315+76G>C	ENSP00000512058.1:n.*1315+76G>C
ENST00000695619.1:c.*1276+76G>C	ENSP00000512059.1:n.*1276+76G>C
ENST00000695620.1:c.*1492+76G>C	ENSP00000512060.1:n.*1492+76G>C
ENST00000695621.1:c.1566+76G>C	ENSP00000512061.1:n.1566+76G>C
ENST00000695622.1:c.1503+76G>C	ENSP00000512062.1:n.1503+76G>C
ENST00000695623.1:c.1560+76G>C	ENSP00000512063.1:n.1560+76G>C
ENST00000695624.1:n.871+76G>C
ENST00000695625.1:c.1566+76G>C	ENSP00000512064.1:n.1566+76G>C
ENST00000695626.1:c.321+808G>C	ENSP00000512065.1:n.321+808G>C
ENST00000695627.1:c.579+76G>C	ENSP00000512066.1:n.579+76G>C
ENST00000695628.1:c.190+1533G>C	ENSP00000512067.1:n.190+1533G>C
ENST00000695629.1:c.190+1533G>C	ENSP00000512068.1:n.190+1533G>C
ENST00000695630.1:c.358+808G>C
ENST00000695631.1:c.114+2334G>C
ENST00000695632.1:n.366+808G>C
ENST00000703407.1:c.1039-1282G>C	ENSP00000512057.1:n.1039-1282G>C
ENST00000308731.8:c.1566+76G>C MANE Select	ENSP00000308176.8:n.1566+76G>C
ENST00000308731.7:c.1566+76G>C	ENSP00000308176.7:n.1566+76G>C
ENST00000372880.5:c.1039-1282G>C	ENSP00000361971.1:n.1039-1282G>C
ENST00000478995.1:n.314G>C
ENST00000618050.4:c.1566+76G>C	ENSP00000479125.1:n.1566+76G>C
ENST00000621635.4:c.1668+76G>C	ENSP00000483570.1:n.1668+76G>C
NM_000061.2:c.1566+76G>C , LRG_128t1:c.1566+76G>C	NP_000052.1:n.1566+76G>C
NM_001287344.1:c.1668+76G>C	NP_001274273.1:n.1668+76G>C
NM_001287345.1:c.1039-1282G>C	NP_001274274.1:n.1039-1282G>C
NM_000061.3:c.1566+76G>C MANE Select	NP_000052.1:n.1566+76G>C
NM_001287344.2:c.1668+76G>C	NP_001274273.1:n.1668+76G>C
NM_001287345.2:c.1039-1282G>C	NP_001274274.1:n.1039-1282G>C