Canonical Allele Identifier: CA413919155

Gene: BTK

Linked Data

• dbSNP Id: rs1555977335
• gnomAD v2: X-100608279-C-T
• gnomAD v3: X-101353291-C-T
• gnomAD v4: X-101353291-C-T
• MyVariant Identifiers: chrX:g.100608279C>T (hg19) ; chrX:g.101353291C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353291C>T , CM000685.2:g.101353291C>T	GRCh38
NC_000023.10:g.100608279C>T , CM000685.1:g.100608279C>T	GRCh37
NC_000023.9:g.100494935C>T	NCBI36
NG_009616.1:g.37934G>A , LRG_128:g.37934G>A
NG_011734.1:g.679G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000478995.2:n.3328G>A
ENST00000488970.2:n.3967G>A
ENST00000695614.1:c.1811G>A	ENSP00000512053.1:p.Ser604Asn
ENST00000695615.1:c.1811G>A	ENSP00000512054.1:p.Ser604Asn
ENST00000695616.1:c.*1656G>A	ENSP00000512055.1:n.*1656G>A
ENST00000695617.1:c.1808G>A	ENSP00000512056.1:p.Ser603Asn
ENST00000695618.1:c.*1560G>A	ENSP00000512058.1:n.*1560G>A
ENST00000695619.1:c.*1521G>A	ENSP00000512059.1:n.*1521G>A
ENST00000695620.1:c.*1737G>A	ENSP00000512060.1:n.*1737G>A
ENST00000695621.1:c.*236G>A	ENSP00000512061.1:n.*236G>A
ENST00000695622.1:c.1748G>A	ENSP00000512062.1:p.Ser583Asn
ENST00000695623.1:c.1805G>A	ENSP00000512063.1:p.Ser602Asn
ENST00000695624.1:n.1116G>A
ENST00000695625.1:c.1811G>A	ENSP00000512064.1:p.Ser604Asn
ENST00000695626.1:c.566G>A	ENSP00000512065.1:n.566G>A
ENST00000695627.1:c.759G>A	ENSP00000512066.1:n.759G>A
ENST00000695628.1:c.370G>A	ENSP00000512067.1:n.370G>A
ENST00000695629.1:c.251G>A	ENSP00000512068.1:p.Ser84Asn
ENST00000695630.1:c.538G>A
ENST00000695631.1:c.115-43G>A
ENST00000703407.1:c.1283G>A	ENSP00000512057.1:p.Ser428Asn
ENST00000308731.8:c.1811G>A MANE Select	ENSP00000308176.8:p.Ser604Asn
ENST00000308731.7:c.1811G>A	ENSP00000308176.7:p.Ser604Asn
ENST00000372880.5:c.1283G>A	ENSP00000361971.1:p.Ser428Asn
ENST00000470069.1:n.176G>A
ENST00000618050.4:c.1810G>A	ENSP00000479125.1:n.1810G>A
ENST00000621635.4:c.1913G>A	ENSP00000483570.1:p.Ser638Asn
NM_000061.2:c.1811G>A , LRG_128t1:c.1811G>A	NP_000052.1:p.Ser604Asn
NM_001287344.1:c.1913G>A	NP_001274273.1:p.Ser638Asn
NM_001287345.1:c.1283G>A	NP_001274274.1:p.Ser428Asn
NM_000061.3:c.1811G>A MANE Select	NP_000052.1:p.Ser604Asn
NM_001287344.2:c.1913G>A	NP_001274273.1:p.Ser638Asn
NM_001287345.2:c.1283G>A	NP_001274274.1:p.Ser428Asn