Canonical Allele Identifier: CA413925950

Gene: BTK

Linked Data

• dbSNP Id: rs1569291997
• gnomAD v4: X-101357509-C-T
• MyVariant Identifiers: chrX:g.100612497C>T (hg19) ; chrX:g.101357509C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101357509C>T , CM000685.2:g.101357509C>T	GRCh38
NC_000023.10:g.100612497C>T , CM000685.1:g.100612497C>T	GRCh37
NC_000023.9:g.100499153C>T	NCBI36
NG_009616.1:g.33716G>A , LRG_128:g.33716G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000478995.2:n.1337G>A
ENST00000488970.2:n.1335G>A
ENST00000695614.1:c.1177G>A	ENSP00000512053.1:p.Gly393Arg
ENST00000695615.1:c.1177G>A	ENSP00000512054.1:p.Gly393Arg
ENST00000695616.1:c.*1022G>A	ENSP00000512055.1:n.*1022G>A
ENST00000695617.1:c.1174G>A	ENSP00000512056.1:p.Gly392Arg
ENST00000695618.1:c.*926G>A	ENSP00000512058.1:n.*926G>A
ENST00000695619.1:c.*887G>A	ENSP00000512059.1:n.*887G>A
ENST00000695620.1:c.*1022G>A	ENSP00000512060.1:n.*1022G>A
ENST00000695621.1:c.1177G>A	ENSP00000512061.1:p.Gly393Arg
ENST00000695622.1:c.1114G>A	ENSP00000512062.1:p.Gly372Arg
ENST00000695623.1:c.1171G>A	ENSP00000512063.1:p.Gly391Arg
ENST00000695624.1:n.482G>A
ENST00000695625.1:c.1177G>A	ENSP00000512064.1:p.Gly393Arg
ENST00000695626.1:c.190G>A	ENSP00000512065.1:p.Gly64Arg
ENST00000695627.1:c.190G>A	ENSP00000512066.1:p.Gly64Arg
ENST00000695628.1:c.190G>A	ENSP00000512067.1:p.Gly64Ser
ENST00000695629.1:c.190G>A	ENSP00000512068.1:p.Gly64Arg
ENST00000695630.1:c.186G>A
ENST00000695631.1:c.114+801G>A
ENST00000695632.1:n.194G>A
ENST00000703407.1:c.1038+865G>A	ENSP00000512057.1:n.1038+865G>A
ENST00000308731.8:c.1177G>A MANE Select	ENSP00000308176.8:p.Gly393Arg
ENST00000308731.7:c.1177G>A	ENSP00000308176.7:p.Gly393Arg
ENST00000372880.5:c.1038+865G>A	ENSP00000361971.1:n.1038+865G>A
ENST00000470329.1:n.127G>A
ENST00000618050.4:c.1177G>A	ENSP00000479125.1:p.Gly393Arg
ENST00000621635.4:c.1279G>A	ENSP00000483570.1:p.Gly427Arg
NM_000061.2:c.1177G>A , LRG_128t1:c.1177G>A	NP_000052.1:p.Gly393Arg
NM_001287344.1:c.1279G>A	NP_001274273.1:p.Gly427Arg
NM_001287345.1:c.1038+865G>A	NP_001274274.1:n.1038+865G>A
NM_000061.3:c.1177G>A MANE Select	NP_000052.1:p.Gly393Arg
NM_001287344.2:c.1279G>A	NP_001274273.1:p.Gly427Arg
NM_001287345.2:c.1038+865G>A	NP_001274274.1:n.1038+865G>A