Canonical Allele Identifier: CA413918919

Gene: BTK

Linked Data

• MyVariant Identifiers: chrX:g.100608252C>G (hg19) ; chrX:g.101353264C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353264C>G , CM000685.2:g.101353264C>G	GRCh38
NC_000023.10:g.100608252C>G , CM000685.1:g.100608252C>G	GRCh37
NC_000023.9:g.100494908C>G	NCBI36
NG_009616.1:g.37961G>C , LRG_128:g.37961G>C
NG_011734.1:g.706G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.3355G>C
ENST00000488970.2:n.3994G>C
ENST00000695614.1:c.1838G>C	ENSP00000512053.1:p.Gly613Ala
ENST00000695615.1:c.1838G>C	ENSP00000512054.1:p.Gly613Ala
ENST00000695616.1:c.*1683G>C	ENSP00000512055.1:n.*1683G>C
ENST00000695617.1:c.1835G>C	ENSP00000512056.1:p.Gly612Ala
ENST00000695618.1:c.*1587G>C	ENSP00000512058.1:n.*1587G>C
ENST00000695619.1:c.*1548G>C	ENSP00000512059.1:n.*1548G>C
ENST00000695620.1:c.*1764G>C	ENSP00000512060.1:n.*1764G>C
ENST00000695621.1:c.*263G>C	ENSP00000512061.1:n.*263G>C
ENST00000695622.1:c.1775G>C	ENSP00000512062.1:p.Gly592Ala
ENST00000695623.1:c.1832G>C	ENSP00000512063.1:p.Gly611Ala
ENST00000695624.1:n.1143G>C
ENST00000695625.1:c.1838G>C	ENSP00000512064.1:p.Gly613Ala
ENST00000695626.1:c.593G>C	ENSP00000512065.1:n.593G>C
ENST00000695627.1:c.786G>C	ENSP00000512066.1:n.786G>C
ENST00000695628.1:c.397G>C	ENSP00000512067.1:n.397G>C
ENST00000695629.1:c.278G>C	ENSP00000512068.1:p.Gly93Ala
ENST00000695630.1:c.565G>C
ENST00000695631.1:c.115-16G>C
ENST00000703407.1:c.1310G>C	ENSP00000512057.1:p.Gly437Ala
ENST00000308731.8:c.1838G>C MANE Select	ENSP00000308176.8:p.Gly613Ala
ENST00000308731.7:c.1838G>C	ENSP00000308176.7:p.Gly613Ala
ENST00000372880.5:c.1310G>C	ENSP00000361971.1:p.Gly437Ala
ENST00000470069.1:n.203G>C
ENST00000618050.4:c.1837G>C	ENSP00000479125.1:n.1837G>C
ENST00000621635.4:c.1940G>C	ENSP00000483570.1:p.Gly647Ala
NM_000061.2:c.1838G>C , LRG_128t1:c.1838G>C	NP_000052.1:p.Gly613Ala
NM_001287344.1:c.1940G>C	NP_001274273.1:p.Gly647Ala
NM_001287345.1:c.1310G>C	NP_001274274.1:p.Gly437Ala
NM_000061.3:c.1838G>C MANE Select	NP_000052.1:p.Gly613Ala
NM_001287344.2:c.1940G>C	NP_001274273.1:p.Gly647Ala
NM_001287345.2:c.1310G>C	NP_001274274.1:p.Gly437Ala