Canonical Allele Identifier: CA16618133

Gene: DIAPH1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.141582352T>C , CM000667.2:g.141582352T>C	GRCh38
NC_000005.9:g.140961919T>C , CM000667.1:g.140961919T>C	GRCh37
NC_000005.8:g.140942103T>C	NCBI36
NG_011594.1:g.41704A>G
NG_011594.2:g.41704A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389054.8:c.644A>G MANE Select	ENSP00000373706.4:p.His215Arg
ENST00000647330.1:c.479A>G	ENSP00000494308.1:p.His160Arg
ENST00000647433.1:c.644A>G	ENSP00000494675.1:p.His215Arg
ENST00000253811.10:c.512A>G	ENSP00000253811.7:p.His171Arg
ENST00000389054.7:c.644A>G	ENSP00000373706.4:p.His215Arg
ENST00000389057.9:c.617A>G	ENSP00000373709.6:p.His206Arg
ENST00000398557.8:c.644A>G	ENSP00000381565.5:p.His215Arg
ENST00000518047.5:c.617A>G	ENSP00000428268.2:p.His206Arg
ENST00000523100.5:c.595+879A>G	ENSP00000428208.1:n.595+879A>G
NM_001079812.2:c.617A>G	NP_001073280.1:p.His206Arg
NM_001314007.1:c.644A>G	NP_001300936.1:p.His215Arg
NM_005219.4:c.644A>G	NP_005210.3:p.His215Arg
XM_011537572.1:c.608A>G	XP_011535874.1:p.His203Arg
XM_011537573.1:c.578A>G	XP_011535875.1:p.His193Arg
XR_944362.1:n.74-588T>C
XM_024454384.1:c.644A>G	XP_024310152.1:p.His215Arg
XM_024454385.1:c.617A>G	XP_024310153.1:p.His206Arg
XM_024454386.1:c.608A>G	XP_024310154.1:p.His203Arg
XM_024454387.1:c.578A>G	XP_024310155.1:p.His193Arg
NM_005219.5:c.644A>G MANE Select	NP_005210.3:p.His215Arg
NM_001079812.3:c.617A>G	NP_001073280.1:p.His206Arg
NM_001314007.2:c.644A>G	NP_001300936.1:p.His215Arg