Canonical Allele Identifier: CA413917688

Gene: BTK

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101349934A>G , CM000685.2:g.101349934A>G	GRCh38
NC_000023.10:g.100604922A>G , CM000685.1:g.100604922A>G	GRCh37
NC_000023.9:g.100491578A>G	NCBI36
NG_009616.1:g.41291T>C , LRG_128:g.41291T>C
NG_011734.1:g.4036T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000061.3:c.1931T>C MANE Select	NP_000052.1:p.Phe644Ser
ENST00000308731.8:c.1931T>C MANE Select	ENSP00000308176.8:p.Phe644Ser
NM_000061.2:c.1931T>C , LRG_128t1:c.1931T>C	NP_000052.1:p.Phe644Ser
NM_001287344.1:c.2033T>C	NP_001274273.1:p.Phe678Ser
NM_001287344.2:c.2033T>C	NP_001274273.1:p.Phe678Ser
NM_001287345.1:c.1403T>C	NP_001274274.1:p.Phe468Ser
NM_001287345.2:c.1403T>C	NP_001274274.1:p.Phe468Ser
ENST00000308731.7:c.1931T>C	ENSP00000308176.7:p.Phe644Ser
ENST00000372880.5:c.1403T>C	ENSP00000361971.1:p.Phe468Ser
ENST00000478995.2:n.3448T>C
ENST00000488970.2:n.4087T>C
ENST00000618050.4:c.1930T>C	ENSP00000479125.1:n.1930T>C
ENST00000621635.4:c.2033T>C	ENSP00000483570.1:p.Phe678Ser
ENST00000695614.1:c.1931T>C	ENSP00000512053.1:p.Phe644Ser
ENST00000695615.1:c.1931T>C	ENSP00000512054.1:p.Phe644Ser
ENST00000695616.1:c.*1776T>C	ENSP00000512055.1:n.*1776T>C
ENST00000695617.1:c.1928T>C	ENSP00000512056.1:p.Phe643Ser
ENST00000695618.1:c.*1680T>C	ENSP00000512058.1:n.*1680T>C
ENST00000695619.1:c.*1641T>C	ENSP00000512059.1:n.*1641T>C
ENST00000695620.1:c.*1857T>C	ENSP00000512060.1:n.*1857T>C
ENST00000695621.1:c.*356T>C	ENSP00000512061.1:n.*356T>C
ENST00000695622.1:c.1868T>C	ENSP00000512062.1:p.Phe623Ser
ENST00000695623.1:c.1925T>C	ENSP00000512063.1:p.Phe642Ser
ENST00000695624.1:n.1236T>C
ENST00000695625.1:c.1898T>C	ENSP00000512064.1:p.Phe633Ser
ENST00000695626.1:c.686T>C	ENSP00000512065.1:n.686T>C
ENST00000695627.1:c.879T>C	ENSP00000512066.1:n.879T>C
ENST00000695628.1:c.490T>C	ENSP00000512067.1:n.490T>C
ENST00000695629.1:c.371T>C	ENSP00000512068.1:p.Phe124Ser
ENST00000695630.1:c.658T>C
ENST00000695631.1:c.192T>C
ENST00000703407.1:c.1403T>C	ENSP00000512057.1:p.Phe468Ser