Canonical Allele Identifier: CA10472968

Gene: BTK

Linked Data

• dbSNP Id: rs781985424
• ExAC: X:100608337 C / T
• gnomAD v2: X-100608337-C-T
• gnomAD v3: X-101353349-C-T
• gnomAD v4: X-101353349-C-T
• MyVariant Identifiers: chrX:g.100608337C>T (hg19) ; chrX:g.101353349C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353349C>T , CM000685.2:g.101353349C>T	GRCh38
NC_000023.10:g.100608337C>T , CM000685.1:g.100608337C>T	GRCh37
NC_000023.9:g.100494993C>T	NCBI36
NG_009616.1:g.37876G>A , LRG_128:g.37876G>A
NG_011734.1:g.621G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.3270G>A
ENST00000488970.2:n.3909G>A
ENST00000695614.1:c.1753G>A	ENSP00000512053.1:p.Val585Ile
ENST00000695615.1:c.1753G>A	ENSP00000512054.1:p.Val585Ile
ENST00000695616.1:c.*1598G>A	ENSP00000512055.1:n.*1598G>A
ENST00000695617.1:c.1750G>A	ENSP00000512056.1:p.Val584Ile
ENST00000695618.1:c.*1502G>A	ENSP00000512058.1:n.*1502G>A
ENST00000695619.1:c.*1463G>A	ENSP00000512059.1:n.*1463G>A
ENST00000695620.1:c.*1679G>A	ENSP00000512060.1:n.*1679G>A
ENST00000695621.1:c.*178G>A	ENSP00000512061.1:n.*178G>A
ENST00000695622.1:c.1690G>A	ENSP00000512062.1:p.Val564Ile
ENST00000695623.1:c.1747G>A	ENSP00000512063.1:p.Val583Ile
ENST00000695624.1:n.1058G>A
ENST00000695625.1:c.1753G>A	ENSP00000512064.1:p.Val585Ile
ENST00000695626.1:c.508G>A	ENSP00000512065.1:n.508G>A
ENST00000695627.1:c.701G>A	ENSP00000512066.1:n.701G>A
ENST00000695628.1:c.312G>A	ENSP00000512067.1:n.312G>A
ENST00000695629.1:c.193G>A	ENSP00000512068.1:p.Val65Ile
ENST00000695630.1:c.480G>A
ENST00000695631.1:c.115-101G>A
ENST00000703407.1:c.1225G>A	ENSP00000512057.1:p.Val409Ile
ENST00000308731.8:c.1753G>A MANE Select	ENSP00000308176.8:p.Val585Ile
ENST00000308731.7:c.1753G>A	ENSP00000308176.7:p.Val585Ile
ENST00000372880.5:c.1225G>A	ENSP00000361971.1:p.Val409Ile
ENST00000470069.1:n.118G>A
ENST00000488970.1:n.355G>A
ENST00000618050.4:c.1752G>A	ENSP00000479125.1:n.1752G>A
ENST00000621635.4:c.1855G>A	ENSP00000483570.1:p.Val619Ile
NM_000061.2:c.1753G>A , LRG_128t1:c.1753G>A	NP_000052.1:p.Val585Ile
NM_001287344.1:c.1855G>A	NP_001274273.1:p.Val619Ile
NM_001287345.1:c.1225G>A	NP_001274274.1:p.Val409Ile
NM_000061.3:c.1753G>A MANE Select	NP_000052.1:p.Val585Ile
NM_001287344.2:c.1855G>A	NP_001274273.1:p.Val619Ile
NM_001287345.2:c.1225G>A	NP_001274274.1:p.Val409Ile