Canonical Allele Identifier: CA361585531

Gene: DIAPH1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.141528941T>C , CM000667.2:g.141528941T>C	GRCh38
NC_000005.9:g.140908508T>C , CM000667.1:g.140908508T>C	GRCh37
NC_000005.8:g.140888692T>C	NCBI36
NG_011594.1:g.95115A>G
NG_011594.2:g.95115A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_005219.5:c.2779A>G MANE Select	NP_005210.3:p.Met927Val
ENST00000389054.8:c.2779A>G MANE Select	ENSP00000373706.4:p.Met927Val
NM_001079812.2:c.2752A>G	NP_001073280.1:p.Met918Val
NM_001079812.3:c.2752A>G	NP_001073280.1:p.Met918Val
NM_001314007.1:c.2779A>G	NP_001300936.1:p.Met927Val
NM_001314007.2:c.2779A>G	NP_001300936.1:p.Met927Val
NM_005219.4:c.2779A>G	NP_005210.3:p.Met927Val
ENST00000253811.10:c.2647A>G	ENSP00000253811.7:p.Met883Val
ENST00000389054.7:c.2779A>G	ENSP00000373706.4:p.Met927Val
ENST00000389057.9:c.2752A>G	ENSP00000373709.6:p.Met918Val
ENST00000398557.8:c.2779A>G	ENSP00000381565.5:p.Met927Val
ENST00000491754.5:n.279A>G
ENST00000494967.5:n.352A>G
ENST00000518047.5:c.2752A>G	ENSP00000428268.2:p.Met918Val
ENST00000518484.1:n.405A>G
ENST00000647433.1:c.2779A>G	ENSP00000494675.1:p.Met927Val
XM_011537572.1:c.2743A>G	XP_011535874.1:p.Met915Val
XM_011537573.1:c.2713A>G	XP_011535875.1:p.Met905Val
XM_024454384.1:c.2779A>G	XP_024310152.1:p.Met927Val
XM_024454385.1:c.2752A>G	XP_024310153.1:p.Met918Val
XM_024454386.1:c.2743A>G	XP_024310154.1:p.Met915Val
XM_024454387.1:c.2713A>G	XP_024310155.1:p.Met905Val