Canonical Allele Identifier: CA413920270

Gene: BTK

Linked Data

• dbSNP Id: rs868981664
• MyVariant Identifiers: chrX:g.100608898C>A (hg19) ; chrX:g.101353910C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353910C>A , CM000685.2:g.101353910C>A	GRCh38
NC_000023.10:g.100608898C>A , CM000685.1:g.100608898C>A	GRCh37
NC_000023.9:g.100495554C>A	NCBI36
NG_009616.1:g.37315G>T , LRG_128:g.37315G>T
NG_011734.1:g.60G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.3227G>T
ENST00000488970.2:n.3866G>T
ENST00000695614.1:c.1710G>T	ENSP00000512053.1:p.Met570Ile
ENST00000695615.1:c.1710G>T	ENSP00000512054.1:p.Met570Ile
ENST00000695616.1:c.*1555G>T	ENSP00000512055.1:n.*1555G>T
ENST00000695617.1:c.1707G>T	ENSP00000512056.1:p.Met569Ile
ENST00000695618.1:c.*1459G>T	ENSP00000512058.1:n.*1459G>T
ENST00000695619.1:c.*1420G>T	ENSP00000512059.1:n.*1420G>T
ENST00000695620.1:c.*1636G>T	ENSP00000512060.1:n.*1636G>T
ENST00000695621.1:c.*135G>T	ENSP00000512061.1:n.*135G>T
ENST00000695622.1:c.1647G>T	ENSP00000512062.1:p.Met549Ile
ENST00000695623.1:c.1704G>T	ENSP00000512063.1:p.Met568Ile
ENST00000695624.1:n.1015G>T
ENST00000695625.1:c.1710G>T	ENSP00000512064.1:p.Met570Ile
ENST00000695626.1:c.465G>T	ENSP00000512065.1:n.465G>T
ENST00000695627.1:c.658G>T	ENSP00000512066.1:n.658G>T
ENST00000695628.1:c.269G>T	ENSP00000512067.1:n.269G>T
ENST00000695629.1:c.191-559G>T	ENSP00000512068.1:n.191-559G>T
ENST00000695630.1:c.437G>T
ENST00000695631.1:c.115-662G>T
ENST00000695632.1:n.510G>T
ENST00000703407.1:c.1182G>T	ENSP00000512057.1:p.Met394Ile
ENST00000308731.8:c.1710G>T MANE Select	ENSP00000308176.8:p.Met570Ile
ENST00000308731.7:c.1710G>T	ENSP00000308176.7:p.Met570Ile
ENST00000372880.5:c.1182G>T	ENSP00000361971.1:p.Met394Ile
ENST00000470069.1:n.75G>T
ENST00000488970.1:n.312G>T
ENST00000618050.4:c.1709G>T	ENSP00000479125.1:n.1709G>T
ENST00000621635.4:c.1812G>T	ENSP00000483570.1:p.Met604Ile
NM_000061.2:c.1710G>T , LRG_128t1:c.1710G>T	NP_000052.1:p.Met570Ile
NM_001287344.1:c.1812G>T	NP_001274273.1:p.Met604Ile
NM_001287345.1:c.1182G>T	NP_001274274.1:p.Met394Ile
NM_000061.3:c.1710G>T MANE Select	NP_000052.1:p.Met570Ile
NM_001287344.2:c.1812G>T	NP_001274273.1:p.Met604Ile
NM_001287345.2:c.1182G>T	NP_001274274.1:p.Met394Ile