Canonical Allele Identifier: CA255846

Gene: BTK

Linked Data

• ClinVar Variation Id: 11389
• ClinVar RCV Id: RCV000012142
• dbSNP Id: rs128621210
• MyVariant Identifiers: chrX:g.100608201A>T (hg19) ; chrX:g.101353213A>T (hg38)
• PubMed: PMID:7849697 ; PMID:7880320

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353213A>T , CM000685.2:g.101353213A>T	GRCh38
NC_000023.10:g.100608201A>T , CM000685.1:g.100608201A>T	GRCh37
NC_000023.9:g.100494857A>T	NCBI36
NG_009616.1:g.38012T>A , LRG_128:g.38012T>A
NG_011734.1:g.757T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.3406T>A
ENST00000488970.2:n.4045T>A
ENST00000695614.1:c.1889T>A	ENSP00000512053.1:p.Met630Lys
ENST00000695615.1:c.1889T>A	ENSP00000512054.1:p.Met630Lys
ENST00000695616.1:c.*1734T>A	ENSP00000512055.1:n.*1734T>A
ENST00000695617.1:c.1886T>A	ENSP00000512056.1:p.Met629Lys
ENST00000695618.1:c.*1638T>A	ENSP00000512058.1:n.*1638T>A
ENST00000695619.1:c.*1599T>A	ENSP00000512059.1:n.*1599T>A
ENST00000695620.1:c.*1815T>A	ENSP00000512060.1:n.*1815T>A
ENST00000695621.1:c.*314T>A	ENSP00000512061.1:n.*314T>A
ENST00000695622.1:c.1826T>A	ENSP00000512062.1:p.Met609Lys
ENST00000695623.1:c.1883T>A	ENSP00000512063.1:p.Met628Lys
ENST00000695624.1:n.1194T>A
ENST00000695625.1:c.1875+14T>A	ENSP00000512064.1:n.1875+14T>A
ENST00000695626.1:c.644T>A	ENSP00000512065.1:n.644T>A
ENST00000695627.1:c.837T>A	ENSP00000512066.1:n.837T>A
ENST00000695628.1:c.448T>A	ENSP00000512067.1:n.448T>A
ENST00000695629.1:c.329T>A	ENSP00000512068.1:p.Met110Lys
ENST00000695630.1:c.616T>A
ENST00000695631.1:c.150T>A
ENST00000703407.1:c.1361T>A	ENSP00000512057.1:p.Met454Lys
ENST00000308731.8:c.1889T>A MANE Select	ENSP00000308176.8:p.Met630Lys
ENST00000308731.7:c.1889T>A	ENSP00000308176.7:p.Met630Lys
ENST00000372880.5:c.1361T>A	ENSP00000361971.1:p.Met454Lys
ENST00000470069.1:n.254T>A
ENST00000618050.4:c.1888T>A	ENSP00000479125.1:n.1888T>A
ENST00000621635.4:c.1991T>A	ENSP00000483570.1:p.Met664Lys
NM_000061.2:c.1889T>A , LRG_128t1:c.1889T>A	NP_000052.1:p.Met630Lys
NM_001287344.1:c.1991T>A	NP_001274273.1:p.Met664Lys
NM_001287345.1:c.1361T>A	NP_001274274.1:p.Met454Lys
NM_000061.3:c.1889T>A MANE Select	NP_000052.1:p.Met630Lys
NM_001287344.2:c.1991T>A	NP_001274273.1:p.Met664Lys
NM_001287345.2:c.1361T>A	NP_001274274.1:p.Met454Lys