Canonical Allele Identifier: CA413923667

Gene: BTK

Linked Data

• gnomAD v4: X-101356115-C-T
• MyVariant Identifiers: chrX:g.100611103C>T (hg19) ; chrX:g.101356115C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101356115C>T , CM000685.2:g.101356115C>T	GRCh38
NC_000023.10:g.100611103C>T , CM000685.1:g.100611103C>T	GRCh37
NC_000023.9:g.100497759C>T	NCBI36
NG_009616.1:g.35110G>A , LRG_128:g.35110G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.1663G>A
ENST00000488970.2:n.1661G>A
ENST00000695614.1:c.1503G>A	ENSP00000512053.1:p.Met501Ile
ENST00000695615.1:c.1503G>A	ENSP00000512054.1:p.Met501Ile
ENST00000695616.1:c.*1348G>A	ENSP00000512055.1:n.*1348G>A
ENST00000695617.1:c.1500G>A	ENSP00000512056.1:p.Met500Ile
ENST00000695618.1:c.*1252G>A	ENSP00000512058.1:n.*1252G>A
ENST00000695619.1:c.*1213G>A	ENSP00000512059.1:n.*1213G>A
ENST00000695620.1:c.*1429G>A	ENSP00000512060.1:n.*1429G>A
ENST00000695621.1:c.1503G>A	ENSP00000512061.1:p.Met501Ile
ENST00000695622.1:c.1440G>A	ENSP00000512062.1:p.Met480Ile
ENST00000695623.1:c.1497G>A	ENSP00000512063.1:p.Met499Ile
ENST00000695624.1:n.808G>A
ENST00000695625.1:c.1503G>A	ENSP00000512064.1:p.Met501Ile
ENST00000695626.1:c.321+669G>A	ENSP00000512065.1:n.321+669G>A
ENST00000695627.1:c.516G>A	ENSP00000512066.1:p.Met172Ile
ENST00000695628.1:c.190+1394G>A	ENSP00000512067.1:n.190+1394G>A
ENST00000695629.1:c.190+1394G>A	ENSP00000512068.1:n.190+1394G>A
ENST00000695630.1:c.358+669G>A
ENST00000695631.1:c.114+2195G>A
ENST00000695632.1:n.366+669G>A
ENST00000703407.1:c.1039-1421G>A	ENSP00000512057.1:n.1039-1421G>A
ENST00000308731.8:c.1503G>A MANE Select	ENSP00000308176.8:p.Met501Ile
ENST00000308731.7:c.1503G>A	ENSP00000308176.7:p.Met501Ile
ENST00000372880.5:c.1039-1421G>A	ENSP00000361971.1:n.1039-1421G>A
ENST00000478995.1:n.175G>A
ENST00000618050.4:c.1503G>A	ENSP00000479125.1:p.Met501Ile
ENST00000621635.4:c.1605G>A	ENSP00000483570.1:p.Met535Ile
NM_000061.2:c.1503G>A , LRG_128t1:c.1503G>A	NP_000052.1:p.Met501Ile
NM_001287344.1:c.1605G>A	NP_001274273.1:p.Met535Ile
NM_001287345.1:c.1039-1421G>A	NP_001274274.1:n.1039-1421G>A
NM_000061.3:c.1503G>A MANE Select	NP_000052.1:p.Met501Ile
NM_001287344.2:c.1605G>A	NP_001274273.1:p.Met535Ile
NM_001287345.2:c.1039-1421G>A	NP_001274274.1:n.1039-1421G>A