Canonical Allele Identifier: CA517529571

Gene: BTK

Linked Data

• MyVariant Identifiers: chrX:g.100608227C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353239C>A , CM000685.2:g.101353239C>A	GRCh38
NC_000023.10:g.100608227C>A , CM000685.1:g.100608227C>A	GRCh37
NC_000023.9:g.100494883C>A	NCBI36
NG_009616.1:g.37986G>T , LRG_128:g.37986G>T
NG_011734.1:g.731G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.3380G>T
ENST00000488970.2:n.4019G>T
ENST00000695614.1:c.1863G>T	ENSP00000512053.1:p.Leu621=
ENST00000695615.1:c.1863G>T	ENSP00000512054.1:p.Leu621=
ENST00000695616.1:c.*1708G>T	ENSP00000512055.1:n.*1708G>T
ENST00000695617.1:c.1860G>T	ENSP00000512056.1:p.Leu620=
ENST00000695618.1:c.*1612G>T	ENSP00000512058.1:n.*1612G>T
ENST00000695619.1:c.*1573G>T	ENSP00000512059.1:n.*1573G>T
ENST00000695620.1:c.*1789G>T	ENSP00000512060.1:n.*1789G>T
ENST00000695621.1:c.*288G>T	ENSP00000512061.1:n.*288G>T
ENST00000695622.1:c.1800G>T	ENSP00000512062.1:p.Leu600=
ENST00000695623.1:c.1857G>T	ENSP00000512063.1:p.Leu619=
ENST00000695624.1:n.1168G>T
ENST00000695625.1:c.1863G>T	ENSP00000512064.1:p.Leu621=
ENST00000695626.1:c.618G>T	ENSP00000512065.1:n.618G>T
ENST00000695627.1:c.811G>T	ENSP00000512066.1:n.811G>T
ENST00000695628.1:c.422G>T	ENSP00000512067.1:n.422G>T
ENST00000695629.1:c.303G>T	ENSP00000512068.1:p.Leu101=
ENST00000695630.1:c.590G>T
ENST00000695631.1:c.124G>T
ENST00000703407.1:c.1335G>T	ENSP00000512057.1:p.Leu445=
ENST00000308731.8:c.1863G>T MANE Select	ENSP00000308176.8:p.Leu621=
ENST00000308731.7:c.1863G>T	ENSP00000308176.7:p.Leu621=
ENST00000372880.5:c.1335G>T	ENSP00000361971.1:p.Leu445=
ENST00000470069.1:n.228G>T
ENST00000618050.4:c.1862G>T	ENSP00000479125.1:n.1862G>T
ENST00000621635.4:c.1965G>T	ENSP00000483570.1:p.Leu655=
NM_000061.2:c.1863G>T , LRG_128t1:c.1863G>T	NP_000052.1:p.Leu621=
NM_001287344.1:c.1965G>T	NP_001274273.1:p.Leu655=
NM_001287345.1:c.1335G>T	NP_001274274.1:p.Leu445=
NM_000061.3:c.1863G>T MANE Select	NP_000052.1:p.Leu621=
NM_001287344.2:c.1965G>T	NP_001274273.1:p.Leu655=
NM_001287345.2:c.1335G>T	NP_001274274.1:p.Leu445=