Canonical Allele Identifier: CA333096357

Gene: BTK

Linked Data

• dbSNP Id: rs978682647
• gnomAD v4: X-101352967-G-A
• MyVariant Identifiers: chrX:g.101352967G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101352967G>A , CM000685.2:g.101352967G>A	GRCh38
NC_000023.10:g.100607955G>A , CM000685.1:g.100607955G>A	GRCh37
NC_000023.9:g.100494611G>A	NCBI36
NG_009616.1:g.38258C>T , LRG_128:g.38258C>T
NG_011734.1:g.1003C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.3425+227C>T
ENST00000488970.2:n.4064+227C>T
ENST00000695614.1:c.1908+227C>T	ENSP00000512053.1:n.1908+227C>T
ENST00000695615.1:c.1908+227C>T	ENSP00000512054.1:n.1908+227C>T
ENST00000695616.1:c.*1753+227C>T	ENSP00000512055.1:n.*1753+227C>T
ENST00000695617.1:c.1905+227C>T	ENSP00000512056.1:n.1905+227C>T
ENST00000695618.1:c.*1657+227C>T	ENSP00000512058.1:n.*1657+227C>T
ENST00000695619.1:c.*1618+227C>T	ENSP00000512059.1:n.*1618+227C>T
ENST00000695620.1:c.*1834+227C>T	ENSP00000512060.1:n.*1834+227C>T
ENST00000695621.1:c.*333+227C>T	ENSP00000512061.1:n.*333+227C>T
ENST00000695622.1:c.1845+227C>T	ENSP00000512062.1:n.1845+227C>T
ENST00000695623.1:c.1902+227C>T	ENSP00000512063.1:n.1902+227C>T
ENST00000695624.1:n.1213+227C>T
ENST00000695625.1:c.1875+260C>T	ENSP00000512064.1:n.1875+260C>T
ENST00000695626.1:c.663+227C>T	ENSP00000512065.1:n.663+227C>T
ENST00000695627.1:c.856+227C>T	ENSP00000512066.1:n.856+227C>T
ENST00000695628.1:c.467+227C>T	ENSP00000512067.1:n.467+227C>T
ENST00000695629.1:c.348+227C>T	ENSP00000512068.1:n.348+227C>T
ENST00000695630.1:c.635+227C>T
ENST00000695631.1:c.169+227C>T
ENST00000703407.1:c.1380+227C>T	ENSP00000512057.1:n.1380+227C>T
ENST00000308731.8:c.1908+227C>T MANE Select	ENSP00000308176.8:n.1908+227C>T
ENST00000308731.7:c.1908+227C>T	ENSP00000308176.7:n.1908+227C>T
ENST00000372880.5:c.1380+227C>T	ENSP00000361971.1:n.1380+227C>T
ENST00000618050.4:c.1907+227C>T	ENSP00000479125.1:n.1907+227C>T
ENST00000621635.4:c.2010+227C>T	ENSP00000483570.1:n.2010+227C>T
NM_000061.2:c.1908+227C>T , LRG_128t1:c.1908+227C>T	NP_000052.1:n.1908+227C>T
NM_001287344.1:c.2010+227C>T	NP_001274273.1:n.2010+227C>T
NM_001287345.1:c.1380+227C>T	NP_001274274.1:n.1380+227C>T
NM_000061.3:c.1908+227C>T MANE Select	NP_000052.1:n.1908+227C>T
NM_001287344.2:c.2010+227C>T	NP_001274273.1:n.2010+227C>T
NM_001287345.2:c.1380+227C>T	NP_001274274.1:n.1380+227C>T