Canonical Allele Identifier: CA413924728

Gene: BTK

Linked Data

• ClinVar Variation Id: 1012315
• ClinVar RCV Id: RCV003512114
• dbSNP Id: rs2147428155
• MyVariant Identifiers: chrX:g.100611771C>T (hg19) ; chrX:g.101356783C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101356783C>T , CM000685.2:g.101356783C>T	GRCh38
NC_000023.10:g.100611771C>T , CM000685.1:g.100611771C>T	GRCh37
NC_000023.9:g.100498427C>T	NCBI36
NG_009616.1:g.34442G>A , LRG_128:g.34442G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000478995.2:n.1509+1G>A
ENST00000488970.2:n.1507+1G>A
ENST00000695614.1:c.1349+1G>A	ENSP00000512053.1:n.1349+1G>A
ENST00000695615.1:c.1349+1G>A	ENSP00000512054.1:n.1349+1G>A
ENST00000695616.1:c.*1194+1G>A	ENSP00000512055.1:n.*1194+1G>A
ENST00000695617.1:c.1346+1G>A	ENSP00000512056.1:n.1346+1G>A
ENST00000695618.1:c.*1098+1G>A	ENSP00000512058.1:n.*1098+1G>A
ENST00000695619.1:c.*1059+1G>A	ENSP00000512059.1:n.*1059+1G>A
ENST00000695620.1:c.*1194+1G>A	ENSP00000512060.1:n.*1194+1G>A
ENST00000695621.1:c.1349+1G>A	ENSP00000512061.1:n.1349+1G>A
ENST00000695622.1:c.1286+1G>A	ENSP00000512062.1:n.1286+1G>A
ENST00000695623.1:c.1343+1G>A	ENSP00000512063.1:n.1343+1G>A
ENST00000695624.1:n.654+1G>A
ENST00000695625.1:c.1349+1G>A	ENSP00000512064.1:n.1349+1G>A
ENST00000695626.1:c.321+1G>A	ENSP00000512065.1:n.321+1G>A
ENST00000695627.1:c.362+1G>A	ENSP00000512066.1:n.362+1G>A
ENST00000695628.1:c.190+726G>A	ENSP00000512067.1:n.190+726G>A
ENST00000695629.1:c.190+726G>A	ENSP00000512068.1:n.190+726G>A
ENST00000695630.1:c.358+1G>A
ENST00000695631.1:c.114+1527G>A
ENST00000695632.1:n.366+1G>A
ENST00000703407.1:c.1038+1591G>A	ENSP00000512057.1:n.1038+1591G>A
ENST00000308731.8:c.1349+1G>A MANE Select	ENSP00000308176.8:n.1349+1G>A
ENST00000308731.7:c.1349+1G>A	ENSP00000308176.7:n.1349+1G>A
ENST00000372880.5:c.1038+1591G>A	ENSP00000361971.1:n.1038+1591G>A
ENST00000470329.1:n.300G>A
ENST00000478995.1:n.21+1G>A
ENST00000618050.4:c.1349+1G>A	ENSP00000479125.1:n.1349+1G>A
ENST00000621635.4:c.1451+1G>A	ENSP00000483570.1:n.1451+1G>A
NM_000061.2:c.1349+1G>A , LRG_128t1:c.1349+1G>A	NP_000052.1:n.1349+1G>A
NM_001287344.1:c.1451+1G>A	NP_001274273.1:n.1451+1G>A
NM_001287345.1:c.1038+1591G>A	NP_001274274.1:n.1038+1591G>A
NM_000061.3:c.1349+1G>A MANE Select	NP_000052.1:n.1349+1G>A
NM_001287344.2:c.1451+1G>A	NP_001274273.1:n.1451+1G>A
NM_001287345.2:c.1038+1591G>A	NP_001274274.1:n.1038+1591G>A