Canonical Allele Identifier: CA413927932

Gene: BTK

Linked Data

• dbSNP Id: rs1555978139
• gnomAD v2: X-100613342-C-T
• gnomAD v4: X-101358354-C-T
• MyVariant Identifiers: chrX:g.100613342C>T (hg19) ; chrX:g.101358354C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101358354C>T , CM000685.2:g.101358354C>T	GRCh38
NC_000023.10:g.100613342C>T , CM000685.1:g.100613342C>T	GRCh37
NC_000023.9:g.100499998C>T	NCBI36
NG_009616.1:g.32871G>A , LRG_128:g.32871G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.1218G>A
ENST00000488970.2:n.1216G>A
ENST00000695614.1:c.1058G>A	ENSP00000512053.1:p.Ser353Asn
ENST00000695615.1:c.1058G>A	ENSP00000512054.1:p.Ser353Asn
ENST00000695616.1:c.*903G>A	ENSP00000512055.1:n.*903G>A
ENST00000695617.1:c.1055G>A	ENSP00000512056.1:p.Ser352Asn
ENST00000695618.1:c.*807G>A	ENSP00000512058.1:n.*807G>A
ENST00000695619.1:c.*768G>A	ENSP00000512059.1:n.*768G>A
ENST00000695620.1:c.*903G>A	ENSP00000512060.1:n.*903G>A
ENST00000695621.1:c.1058G>A	ENSP00000512061.1:p.Ser353Asn
ENST00000695622.1:c.995G>A	ENSP00000512062.1:p.Ser332Asn
ENST00000695623.1:c.1052G>A	ENSP00000512063.1:p.Ser351Asn
ENST00000695624.1:n.363G>A
ENST00000695625.1:c.1058G>A	ENSP00000512064.1:p.Ser353Asn
ENST00000695626.1:c.71G>A	ENSP00000512065.1:p.Ser24Asn
ENST00000695627.1:c.71G>A	ENSP00000512066.1:p.Ser24Asn
ENST00000695628.1:c.71G>A	ENSP00000512067.1:p.Ser24Asn
ENST00000695629.1:c.71G>A	ENSP00000512068.1:p.Ser24Asn
ENST00000695630.1:c.67G>A
ENST00000695631.1:c.70G>A
ENST00000695632.1:n.75G>A
ENST00000703407.1:c.1038+20G>A	ENSP00000512057.1:n.1038+20G>A
ENST00000308731.8:c.1058G>A MANE Select	ENSP00000308176.8:p.Ser353Asn
ENST00000308731.7:c.1058G>A	ENSP00000308176.7:p.Ser353Asn
ENST00000372880.5:c.1038+20G>A	ENSP00000361971.1:n.1038+20G>A
ENST00000470329.1:n.8G>A
ENST00000618050.4:c.1058G>A	ENSP00000479125.1:p.Ser353Asn
ENST00000621635.4:c.1160G>A	ENSP00000483570.1:p.Ser387Asn
NM_000061.2:c.1058G>A , LRG_128t1:c.1058G>A	NP_000052.1:p.Ser353Asn
NM_001287344.1:c.1160G>A	NP_001274273.1:p.Ser387Asn
NM_001287345.1:c.1038+20G>A	NP_001274274.1:n.1038+20G>A
NM_000061.3:c.1058G>A MANE Select	NP_000052.1:p.Ser353Asn
NM_001287344.2:c.1160G>A	NP_001274273.1:p.Ser387Asn
NM_001287345.2:c.1038+20G>A	NP_001274274.1:n.1038+20G>A