Canonical Allele Identifier: CA333096466

Gene: BTK

Linked Data

• dbSNP Id: rs189040439
• MyVariant Identifiers: chrX:g.100608606A>G (hg19) ; chrX:g.101353618A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353618A>G , CM000685.2:g.101353618A>G	GRCh38
NC_000023.10:g.100608606A>G , CM000685.1:g.100608606A>G	GRCh37
NC_000023.9:g.100495262A>G	NCBI36
NG_009616.1:g.37607T>C , LRG_128:g.37607T>C
NG_011734.1:g.352T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.3267+252T>C
ENST00000488970.2:n.3906+252T>C
ENST00000695614.1:c.1750+252T>C	ENSP00000512053.1:n.1750+252T>C
ENST00000695615.1:c.1750+252T>C	ENSP00000512054.1:n.1750+252T>C
ENST00000695616.1:c.*1595+252T>C	ENSP00000512055.1:n.*1595+252T>C
ENST00000695617.1:c.1747+252T>C	ENSP00000512056.1:n.1747+252T>C
ENST00000695618.1:c.*1499+252T>C	ENSP00000512058.1:n.*1499+252T>C
ENST00000695619.1:c.*1460+252T>C	ENSP00000512059.1:n.*1460+252T>C
ENST00000695620.1:c.*1676+252T>C	ENSP00000512060.1:n.*1676+252T>C
ENST00000695621.1:c.*175+252T>C	ENSP00000512061.1:n.*175+252T>C
ENST00000695622.1:c.1687+252T>C	ENSP00000512062.1:n.1687+252T>C
ENST00000695623.1:c.1744+252T>C	ENSP00000512063.1:n.1744+252T>C
ENST00000695624.1:n.1055+252T>C
ENST00000695625.1:c.1750+252T>C	ENSP00000512064.1:n.1750+252T>C
ENST00000695626.1:c.505+252T>C	ENSP00000512065.1:n.505+252T>C
ENST00000695627.1:c.698+252T>C	ENSP00000512066.1:n.698+252T>C
ENST00000695628.1:c.309+252T>C	ENSP00000512067.1:n.309+252T>C
ENST00000695629.1:c.191-267T>C	ENSP00000512068.1:n.191-267T>C
ENST00000695630.1:c.477+252T>C
ENST00000695631.1:c.115-370T>C
ENST00000703407.1:c.1222+252T>C	ENSP00000512057.1:n.1222+252T>C
ENST00000308731.8:c.1750+252T>C MANE Select	ENSP00000308176.8:n.1750+252T>C
ENST00000308731.7:c.1750+252T>C	ENSP00000308176.7:n.1750+252T>C
ENST00000372880.5:c.1222+252T>C	ENSP00000361971.1:n.1222+252T>C
ENST00000470069.1:n.115+252T>C
ENST00000488970.1:n.352+252T>C
ENST00000618050.4:c.1749+252T>C	ENSP00000479125.1:n.1749+252T>C
ENST00000621635.4:c.1852+252T>C	ENSP00000483570.1:n.1852+252T>C
NM_000061.2:c.1750+252T>C , LRG_128t1:c.1750+252T>C	NP_000052.1:n.1750+252T>C
NM_001287344.1:c.1852+252T>C	NP_001274273.1:n.1852+252T>C
NM_001287345.1:c.1222+252T>C	NP_001274274.1:n.1222+252T>C
NM_000061.3:c.1750+252T>C MANE Select	NP_000052.1:n.1750+252T>C
NM_001287344.2:c.1852+252T>C	NP_001274273.1:n.1852+252T>C
NM_001287345.2:c.1222+252T>C	NP_001274274.1:n.1222+252T>C