Canonical Allele Identifier: CA128424006

Gene: DIAPH1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.141526582A>G , CM000667.2:g.141526582A>G	GRCh38
NC_000005.9:g.140906149A>G , CM000667.1:g.140906149A>G	GRCh37
NC_000005.8:g.140886333A>G	NCBI36
NG_011594.1:g.97474T>C
NG_011594.2:g.97474T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_005219.5:c.3274-121T>C MANE Select	NP_005210.3:n.3274-121T>C
ENST00000389054.8:c.3274-121T>C MANE Select	ENSP00000373706.4:n.3274-121T>C
NM_001079812.2:c.3247-121T>C	NP_001073280.1:n.3247-121T>C
NM_001079812.3:c.3247-121T>C	NP_001073280.1:n.3247-121T>C
NM_001314007.1:c.3274-121T>C	NP_001300936.1:n.3274-121T>C
NM_001314007.2:c.3274-121T>C	NP_001300936.1:n.3274-121T>C
NM_005219.4:c.3274-121T>C	NP_005210.3:n.3274-121T>C
ENST00000253811.10:c.3144-123T>C	ENSP00000253811.7:n.3144-123T>C
ENST00000389054.7:c.3274-121T>C	ENSP00000373706.4:n.3274-121T>C
ENST00000389057.9:c.3247-121T>C	ENSP00000373709.6:n.3247-121T>C
ENST00000398557.8:c.3274-121T>C	ENSP00000381565.5:n.3274-121T>C
ENST00000518047.5:c.3247-121T>C	ENSP00000428268.2:n.3247-121T>C
ENST00000647433.1:c.3274-121T>C	ENSP00000494675.1:n.3274-121T>C
XM_011537572.1:c.3238-121T>C	XP_011535874.1:n.3238-121T>C
XM_011537573.1:c.3208-121T>C	XP_011535875.1:n.3208-121T>C
XM_024454384.1:c.3274-121T>C	XP_024310152.1:n.3274-121T>C
XM_024454385.1:c.3247-121T>C	XP_024310153.1:n.3247-121T>C
XM_024454386.1:c.3238-121T>C	XP_024310154.1:n.3238-121T>C
XM_024454387.1:c.3208-121T>C	XP_024310155.1:n.3208-121T>C