Canonical Allele Identifier: CA413923132

Gene: BTK

Linked Data

• MyVariant Identifiers: chrX:g.100611060G>T (hg19) ; chrX:g.101356072G>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000478995.2:n.1706C>A
ENST00000488970.2:n.1704C>A
ENST00000695614.1:c.1546C>A	ENSP00000512053.1:p.Gln516Lys
ENST00000695615.1:c.1546C>A	ENSP00000512054.1:p.Gln516Lys
ENST00000695616.1:c.*1391C>A	ENSP00000512055.1:n.*1391C>A
ENST00000695617.1:c.1543C>A	ENSP00000512056.1:p.Gln515Lys
ENST00000695618.1:c.*1295C>A	ENSP00000512058.1:n.*1295C>A
ENST00000695619.1:c.*1256C>A	ENSP00000512059.1:n.*1256C>A
ENST00000695620.1:c.*1472C>A	ENSP00000512060.1:n.*1472C>A
ENST00000695621.1:c.1546C>A	ENSP00000512061.1:p.Gln516Lys
ENST00000695622.1:c.1483C>A	ENSP00000512062.1:p.Gln495Lys
ENST00000695623.1:c.1540C>A	ENSP00000512063.1:p.Gln514Lys
ENST00000695624.1:n.851C>A
ENST00000695625.1:c.1546C>A	ENSP00000512064.1:p.Gln516Lys
ENST00000695626.1:c.321+712C>A	ENSP00000512065.1:n.321+712C>A
ENST00000695627.1:c.559C>A	ENSP00000512066.1:p.Gln187Lys
ENST00000695628.1:c.190+1437C>A	ENSP00000512067.1:n.190+1437C>A
ENST00000695629.1:c.190+1437C>A	ENSP00000512068.1:n.190+1437C>A
ENST00000695630.1:c.358+712C>A
ENST00000695631.1:c.114+2238C>A
ENST00000695632.1:n.366+712C>A
ENST00000703407.1:c.1039-1378C>A	ENSP00000512057.1:n.1039-1378C>A
ENST00000308731.8:c.1546C>A MANE Select	ENSP00000308176.8:p.Gln516Lys
ENST00000308731.7:c.1546C>A	ENSP00000308176.7:p.Gln516Lys
ENST00000372880.5:c.1039-1378C>A	ENSP00000361971.1:n.1039-1378C>A
ENST00000478995.1:n.218C>A
ENST00000618050.4:c.1546C>A	ENSP00000479125.1:p.Gln516Lys
ENST00000621635.4:c.1648C>A	ENSP00000483570.1:p.Gln550Lys
NM_000061.2:c.1546C>A , LRG_128t1:c.1546C>A	NP_000052.1:p.Gln516Lys
NM_001287344.1:c.1648C>A	NP_001274273.1:p.Gln550Lys
NM_001287345.1:c.1039-1378C>A	NP_001274274.1:n.1039-1378C>A
NM_000061.3:c.1546C>A MANE Select	NP_000052.1:p.Gln516Lys
NM_001287344.2:c.1648C>A	NP_001274273.1:p.Gln550Lys
NM_001287345.2:c.1039-1378C>A	NP_001274274.1:n.1039-1378C>A