Canonical Allele Identifier: CA413923103

Gene: BTK

Linked Data

• MyVariant Identifiers: chrX:g.100611058C>A (hg19) ; chrX:g.101356070C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101356070C>A , CM000685.2:g.101356070C>A	GRCh38
NC_000023.10:g.100611058C>A , CM000685.1:g.100611058C>A	GRCh37
NC_000023.9:g.100497714C>A	NCBI36
NG_009616.1:g.35155G>T , LRG_128:g.35155G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000478995.2:n.1708G>T
ENST00000488970.2:n.1706G>T
ENST00000695614.1:c.1548G>T	ENSP00000512053.1:p.Gln516His
ENST00000695615.1:c.1548G>T	ENSP00000512054.1:p.Gln516His
ENST00000695616.1:c.*1393G>T	ENSP00000512055.1:n.*1393G>T
ENST00000695617.1:c.1545G>T	ENSP00000512056.1:p.Gln515His
ENST00000695618.1:c.*1297G>T	ENSP00000512058.1:n.*1297G>T
ENST00000695619.1:c.*1258G>T	ENSP00000512059.1:n.*1258G>T
ENST00000695620.1:c.*1474G>T	ENSP00000512060.1:n.*1474G>T
ENST00000695621.1:c.1548G>T	ENSP00000512061.1:p.Gln516His
ENST00000695622.1:c.1485G>T	ENSP00000512062.1:p.Gln495His
ENST00000695623.1:c.1542G>T	ENSP00000512063.1:p.Gln514His
ENST00000695624.1:n.853G>T
ENST00000695625.1:c.1548G>T	ENSP00000512064.1:p.Gln516His
ENST00000695626.1:c.321+714G>T	ENSP00000512065.1:n.321+714G>T
ENST00000695627.1:c.561G>T	ENSP00000512066.1:p.Gln187His
ENST00000695628.1:c.190+1439G>T	ENSP00000512067.1:n.190+1439G>T
ENST00000695629.1:c.190+1439G>T	ENSP00000512068.1:n.190+1439G>T
ENST00000695630.1:c.358+714G>T
ENST00000695631.1:c.114+2240G>T
ENST00000695632.1:n.366+714G>T
ENST00000703407.1:c.1039-1376G>T	ENSP00000512057.1:n.1039-1376G>T
ENST00000308731.8:c.1548G>T MANE Select	ENSP00000308176.8:p.Gln516His
ENST00000308731.7:c.1548G>T	ENSP00000308176.7:p.Gln516His
ENST00000372880.5:c.1039-1376G>T	ENSP00000361971.1:n.1039-1376G>T
ENST00000478995.1:n.220G>T
ENST00000618050.4:c.1548G>T	ENSP00000479125.1:p.Gln516His
ENST00000621635.4:c.1650G>T	ENSP00000483570.1:p.Gln550His
NM_000061.2:c.1548G>T , LRG_128t1:c.1548G>T	NP_000052.1:p.Gln516His
NM_001287344.1:c.1650G>T	NP_001274273.1:p.Gln550His
NM_001287345.1:c.1039-1376G>T	NP_001274274.1:n.1039-1376G>T
NM_000061.3:c.1548G>T MANE Select	NP_000052.1:p.Gln516His
NM_001287344.2:c.1650G>T	NP_001274273.1:p.Gln550His
NM_001287345.2:c.1039-1376G>T	NP_001274274.1:n.1039-1376G>T