Canonical Allele Identifier: CA333096507

Gene: BTK

Linked Data

• dbSNP Id: rs3208811
• gnomAD v4: X-101353934-C-A
• MyVariant Identifiers: chrX:g.100608922C>A (hg19) ; chrX:g.101353934C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353934C>A , CM000685.2:g.101353934C>A	GRCh38
NC_000023.10:g.100608922C>A , CM000685.1:g.100608922C>A	GRCh37
NC_000023.9:g.100495578C>A	NCBI36
NG_009616.1:g.37291G>T , LRG_128:g.37291G>T
NG_011734.1:g.36G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.3203G>T
ENST00000488970.2:n.3842G>T
ENST00000695614.1:c.1686G>T	ENSP00000512053.1:p.Arg562=
ENST00000695615.1:c.1686G>T	ENSP00000512054.1:p.Arg562=
ENST00000695616.1:c.*1531G>T	ENSP00000512055.1:n.*1531G>T
ENST00000695617.1:c.1683G>T	ENSP00000512056.1:p.Arg561=
ENST00000695618.1:c.*1435G>T	ENSP00000512058.1:n.*1435G>T
ENST00000695619.1:c.*1396G>T	ENSP00000512059.1:n.*1396G>T
ENST00000695620.1:c.*1612G>T	ENSP00000512060.1:n.*1612G>T
ENST00000695621.1:c.*111G>T	ENSP00000512061.1:n.*111G>T
ENST00000695622.1:c.1623G>T	ENSP00000512062.1:p.Arg541=
ENST00000695623.1:c.1680G>T	ENSP00000512063.1:p.Arg560=
ENST00000695624.1:n.991G>T
ENST00000695625.1:c.1686G>T	ENSP00000512064.1:p.Arg562=
ENST00000695626.1:c.441G>T	ENSP00000512065.1:n.441G>T
ENST00000695627.1:c.634G>T	ENSP00000512066.1:n.634G>T
ENST00000695628.1:c.245G>T	ENSP00000512067.1:n.245G>T
ENST00000695629.1:c.191-583G>T	ENSP00000512068.1:n.191-583G>T
ENST00000695630.1:c.413G>T
ENST00000695631.1:c.115-686G>T
ENST00000695632.1:n.486G>T
ENST00000703407.1:c.1158G>T	ENSP00000512057.1:p.Arg386=
ENST00000308731.8:c.1686G>T MANE Select	ENSP00000308176.8:p.Arg562=
ENST00000308731.7:c.1686G>T	ENSP00000308176.7:p.Arg562=
ENST00000372880.5:c.1158G>T	ENSP00000361971.1:p.Arg386=
ENST00000470069.1:n.51G>T
ENST00000488970.1:n.288G>T
ENST00000618050.4:c.1686G>T	ENSP00000479125.1:p.Arg562=
ENST00000621635.4:c.1788G>T	ENSP00000483570.1:p.Arg596=
NM_000061.2:c.1686G>T , LRG_128t1:c.1686G>T	NP_000052.1:p.Arg562=
NM_001287344.1:c.1788G>T	NP_001274273.1:p.Arg596=
NM_001287345.1:c.1158G>T	NP_001274274.1:p.Arg386=
NM_000061.3:c.1686G>T MANE Select	NP_000052.1:p.Arg562=
NM_001287344.2:c.1788G>T	NP_001274273.1:p.Arg596=
NM_001287345.2:c.1158G>T	NP_001274274.1:p.Arg386=