Canonical Allele Identifier: CA121434

Gene: BTK

Linked Data

• ClinVar Variation Id: 11381
• ClinVar RCV Id: RCV000012134 ; RCV001810852
• dbSNP Id: rs128621203
• MyVariant Identifiers: chrX:g.100609624A>G (hg19) ; chrX:g.101354636A>G (hg38)
• PubMed: PMID:7849697

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101354636A>G , CM000685.2:g.101354636A>G	GRCh38
NC_000023.10:g.100609624A>G , CM000685.1:g.100609624A>G	GRCh37
NC_000023.9:g.100496280A>G	NCBI36
NG_009616.1:g.36589T>C , LRG_128:g.36589T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.3142T>C
ENST00000488970.2:n.3140T>C
ENST00000695614.1:c.1625T>C	ENSP00000512053.1:p.Leu542Pro
ENST00000695615.1:c.1625T>C	ENSP00000512054.1:p.Leu542Pro
ENST00000695616.1:c.*1470T>C	ENSP00000512055.1:n.*1470T>C
ENST00000695617.1:c.1622T>C	ENSP00000512056.1:p.Leu541Pro
ENST00000695618.1:c.*1374T>C	ENSP00000512058.1:n.*1374T>C
ENST00000695619.1:c.*1335T>C	ENSP00000512059.1:n.*1335T>C
ENST00000695620.1:c.*1551T>C	ENSP00000512060.1:n.*1551T>C
ENST00000695621.1:c.1625T>C	ENSP00000512061.1:p.Leu542Pro
ENST00000695622.1:c.1562T>C	ENSP00000512062.1:p.Leu521Pro
ENST00000695623.1:c.1619T>C	ENSP00000512063.1:p.Leu540Pro
ENST00000695624.1:n.930T>C
ENST00000695625.1:c.1625T>C	ENSP00000512064.1:p.Leu542Pro
ENST00000695626.1:c.380T>C	ENSP00000512065.1:n.380T>C
ENST00000695627.1:c.580-648T>C	ENSP00000512066.1:n.580-648T>C
ENST00000695628.1:c.191-648T>C	ENSP00000512067.1:n.191-648T>C
ENST00000695629.1:c.191-1285T>C	ENSP00000512068.1:n.191-1285T>C
ENST00000695630.1:c.359-648T>C
ENST00000695631.1:c.115-1388T>C
ENST00000695632.1:n.425T>C
ENST00000703407.1:c.1097T>C	ENSP00000512057.1:p.Leu366Pro
ENST00000308731.8:c.1625T>C MANE Select	ENSP00000308176.8:p.Leu542Pro
ENST00000308731.7:c.1625T>C	ENSP00000308176.7:p.Leu542Pro
ENST00000372880.5:c.1097T>C	ENSP00000361971.1:p.Leu366Pro
ENST00000618050.4:c.1625T>C	ENSP00000479125.1:p.Leu542Pro
ENST00000621635.4:c.1727T>C	ENSP00000483570.1:p.Leu576Pro
NM_000061.2:c.1625T>C , LRG_128t1:c.1625T>C	NP_000052.1:p.Leu542Pro
NM_001287344.1:c.1727T>C	NP_001274273.1:p.Leu576Pro
NM_001287345.1:c.1097T>C	NP_001274274.1:p.Leu366Pro
NM_000061.3:c.1625T>C MANE Select	NP_000052.1:p.Leu542Pro
NM_001287344.2:c.1727T>C	NP_001274273.1:p.Leu576Pro
NM_001287345.2:c.1097T>C	NP_001274274.1:p.Leu366Pro