Canonical Allele Identifier: CA413930040

Gene: BTK

Linked Data

• dbSNP Id: rs2147430978
• COSMIC: COSM1111840
• MyVariant Identifiers: chrX:g.100614309C>T (hg19) ; chrX:g.101359321C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101359321C>T , CM000685.2:g.101359321C>T	GRCh38
NC_000023.10:g.100614309C>T , CM000685.1:g.100614309C>T	GRCh37
NC_000023.9:g.100500965C>T	NCBI36
NG_009616.1:g.31904G>A , LRG_128:g.31904G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000464006.2:n.646G>A
ENST00000478995.2:n.1026G>A
ENST00000488970.2:n.1024G>A
ENST00000695614.1:c.866G>A	ENSP00000512053.1:p.Ser289Asn
ENST00000695615.1:c.866G>A	ENSP00000512054.1:p.Ser289Asn
ENST00000695616.1:c.*711G>A	ENSP00000512055.1:n.*711G>A
ENST00000695617.1:c.863G>A	ENSP00000512056.1:p.Ser288Asn
ENST00000695618.1:c.*615G>A	ENSP00000512058.1:n.*615G>A
ENST00000695619.1:c.*684+767G>A	ENSP00000512059.1:n.*684+767G>A
ENST00000695620.1:c.*711G>A	ENSP00000512060.1:n.*711G>A
ENST00000695621.1:c.866G>A	ENSP00000512061.1:p.Ser289Asn
ENST00000695622.1:c.803G>A	ENSP00000512062.1:p.Ser268Asn
ENST00000695623.1:c.860G>A	ENSP00000512063.1:p.Ser287Asn
ENST00000695624.1:n.171G>A
ENST00000695625.1:c.866G>A	ENSP00000512064.1:p.Ser289Asn
ENST00000703407.1:c.866G>A	ENSP00000512057.1:p.Ser289Asn
ENST00000308731.8:c.866G>A MANE Select	ENSP00000308176.8:p.Ser289Asn
ENST00000308731.7:c.866G>A	ENSP00000308176.7:p.Ser289Asn
ENST00000372880.5:c.866G>A	ENSP00000361971.1:p.Ser289Asn
ENST00000618050.4:c.866G>A	ENSP00000479125.1:p.Ser289Asn
ENST00000621635.4:c.968G>A	ENSP00000483570.1:p.Ser323Asn
NM_000061.2:c.866G>A , LRG_128t1:c.866G>A	NP_000052.1:p.Ser289Asn
NM_001287344.1:c.968G>A	NP_001274273.1:p.Ser323Asn
NM_001287345.1:c.866G>A	NP_001274274.1:p.Ser289Asn
NM_000061.3:c.866G>A MANE Select	NP_000052.1:p.Ser289Asn
NM_001287344.2:c.968G>A	NP_001274273.1:p.Ser323Asn
NM_001287345.2:c.866G>A	NP_001274274.1:p.Ser289Asn