Canonical Allele Identifier: CA517531159

Gene: BTK

Linked Data

• ClinVar Variation Id: 2810047
• ClinVar RCV Id: RCV003625165
• gnomAD v4: X-101353958-T-G
• MyVariant Identifiers: chrX:g.100608946T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353958T>G , CM000685.2:g.101353958T>G	GRCh38
NC_000023.10:g.100608946T>G , CM000685.1:g.100608946T>G	GRCh37
NC_000023.9:g.100495602T>G	NCBI36
NG_009616.1:g.37267A>C , LRG_128:g.37267A>C
NG_011734.1:g.12A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.3179A>C
ENST00000488970.2:n.3818A>C
ENST00000695614.1:c.1662A>C	ENSP00000512053.1:p.Ser554=
ENST00000695615.1:c.1662A>C	ENSP00000512054.1:p.Ser554=
ENST00000695616.1:c.*1507A>C	ENSP00000512055.1:n.*1507A>C
ENST00000695617.1:c.1659A>C	ENSP00000512056.1:p.Ser553=
ENST00000695618.1:c.*1411A>C	ENSP00000512058.1:n.*1411A>C
ENST00000695619.1:c.*1372A>C	ENSP00000512059.1:n.*1372A>C
ENST00000695620.1:c.*1588A>C	ENSP00000512060.1:n.*1588A>C
ENST00000695621.1:c.*87A>C	ENSP00000512061.1:n.*87A>C
ENST00000695622.1:c.1599A>C	ENSP00000512062.1:p.Ser533=
ENST00000695623.1:c.1656A>C	ENSP00000512063.1:p.Ser552=
ENST00000695624.1:n.967A>C
ENST00000695625.1:c.1662A>C	ENSP00000512064.1:p.Ser554=
ENST00000695626.1:c.417A>C	ENSP00000512065.1:n.417A>C
ENST00000695627.1:c.610A>C	ENSP00000512066.1:n.610A>C
ENST00000695628.1:c.221A>C	ENSP00000512067.1:p.Gln74Pro
ENST00000695629.1:c.191-607A>C	ENSP00000512068.1:n.191-607A>C
ENST00000695630.1:c.389A>C
ENST00000695631.1:c.115-710A>C
ENST00000695632.1:n.462A>C
ENST00000703407.1:c.1134A>C	ENSP00000512057.1:p.Ser378=
ENST00000308731.8:c.1662A>C MANE Select	ENSP00000308176.8:p.Ser554=
ENST00000308731.7:c.1662A>C	ENSP00000308176.7:p.Ser554=
ENST00000372880.5:c.1134A>C	ENSP00000361971.1:p.Ser378=
ENST00000470069.1:n.27A>C
ENST00000488970.1:n.264A>C
ENST00000618050.4:c.1662A>C	ENSP00000479125.1:p.Ser554=
ENST00000621635.4:c.1764A>C	ENSP00000483570.1:p.Ser588=
NM_000061.2:c.1662A>C , LRG_128t1:c.1662A>C	NP_000052.1:p.Ser554=
NM_001287344.1:c.1764A>C	NP_001274273.1:p.Ser588=
NM_001287345.1:c.1134A>C	NP_001274274.1:p.Ser378=
NM_000061.3:c.1662A>C MANE Select	NP_000052.1:p.Ser554=
NM_001287344.2:c.1764A>C	NP_001274273.1:p.Ser588=
NM_001287345.2:c.1134A>C	NP_001274274.1:p.Ser378=