Canonical Allele Identifier: CA413923127

Gene: BTK

Linked Data

• ClinVar Variation Id: 645829
• ClinVar RCV Id: RCV000799991
• dbSNP Id: rs1603004481
• MyVariant Identifiers: chrX:g.100611060G>A (hg19) ; chrX:g.101356072G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101356072G>A , CM000685.2:g.101356072G>A	GRCh38
NC_000023.10:g.100611060G>A , CM000685.1:g.100611060G>A	GRCh37
NC_000023.9:g.100497716G>A	NCBI36
NG_009616.1:g.35153C>T , LRG_128:g.35153C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.1706C>T
ENST00000488970.2:n.1704C>T
ENST00000695614.1:c.1546C>T	ENSP00000512053.1:p.Gln516Ter
ENST00000695615.1:c.1546C>T	ENSP00000512054.1:p.Gln516Ter
ENST00000695616.1:c.*1391C>T	ENSP00000512055.1:n.*1391C>T
ENST00000695617.1:c.1543C>T	ENSP00000512056.1:p.Gln515Ter
ENST00000695618.1:c.*1295C>T	ENSP00000512058.1:n.*1295C>T
ENST00000695619.1:c.*1256C>T	ENSP00000512059.1:n.*1256C>T
ENST00000695620.1:c.*1472C>T	ENSP00000512060.1:n.*1472C>T
ENST00000695621.1:c.1546C>T	ENSP00000512061.1:p.Gln516Ter
ENST00000695622.1:c.1483C>T	ENSP00000512062.1:p.Gln495Ter
ENST00000695623.1:c.1540C>T	ENSP00000512063.1:p.Gln514Ter
ENST00000695624.1:n.851C>T
ENST00000695625.1:c.1546C>T	ENSP00000512064.1:p.Gln516Ter
ENST00000695626.1:c.321+712C>T	ENSP00000512065.1:n.321+712C>T
ENST00000695627.1:c.559C>T	ENSP00000512066.1:p.Gln187Ter
ENST00000695628.1:c.190+1437C>T	ENSP00000512067.1:n.190+1437C>T
ENST00000695629.1:c.190+1437C>T	ENSP00000512068.1:n.190+1437C>T
ENST00000695630.1:c.358+712C>T
ENST00000695631.1:c.114+2238C>T
ENST00000695632.1:n.366+712C>T
ENST00000703407.1:c.1039-1378C>T	ENSP00000512057.1:n.1039-1378C>T
ENST00000308731.8:c.1546C>T MANE Select	ENSP00000308176.8:p.Gln516Ter
ENST00000308731.7:c.1546C>T	ENSP00000308176.7:p.Gln516Ter
ENST00000372880.5:c.1039-1378C>T	ENSP00000361971.1:n.1039-1378C>T
ENST00000478995.1:n.218C>T
ENST00000618050.4:c.1546C>T	ENSP00000479125.1:p.Gln516Ter
ENST00000621635.4:c.1648C>T	ENSP00000483570.1:p.Gln550Ter
NM_000061.2:c.1546C>T , LRG_128t1:c.1546C>T	NP_000052.1:p.Gln516Ter
NM_001287344.1:c.1648C>T	NP_001274273.1:p.Gln550Ter
NM_001287345.1:c.1039-1378C>T	NP_001274274.1:n.1039-1378C>T
NM_000061.3:c.1546C>T MANE Select	NP_000052.1:p.Gln516Ter
NM_001287344.2:c.1648C>T	NP_001274273.1:p.Gln550Ter
NM_001287345.2:c.1039-1378C>T	NP_001274274.1:n.1039-1378C>T