Canonical Allele Identifier: CA361544198

Gene: DIAPH1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.141584218A>G , CM000667.2:g.141584218A>G	GRCh38
NC_000005.9:g.140963785A>G , CM000667.1:g.140963785A>G	GRCh37
NC_000005.8:g.140943969A>G	NCBI36
NG_011594.1:g.39838T>C
NG_011594.2:g.39838T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_005219.5:c.308T>C MANE Select	NP_005210.3:p.Met103Thr
ENST00000389054.8:c.308T>C MANE Select	ENSP00000373706.4:p.Met103Thr
NM_001079812.2:c.281T>C	NP_001073280.1:p.Met94Thr
NM_001079812.3:c.281T>C	NP_001073280.1:p.Met94Thr
NM_001314007.1:c.308T>C	NP_001300936.1:p.Met103Thr
NM_001314007.2:c.308T>C	NP_001300936.1:p.Met103Thr
NM_005219.4:c.308T>C	NP_005210.3:p.Met103Thr
ENST00000253811.10:c.176T>C	ENSP00000253811.7:p.Met59Thr
ENST00000389054.7:c.308T>C	ENSP00000373706.4:p.Met103Thr
ENST00000389057.9:c.281T>C	ENSP00000373709.6:p.Met94Thr
ENST00000398557.8:c.308T>C	ENSP00000381565.5:p.Met103Thr
ENST00000518047.5:c.281T>C	ENSP00000428268.2:p.Met94Thr
ENST00000523100.5:c.308T>C	ENSP00000428208.1:p.Met103Thr
ENST00000524301.1:c.146T>C	ENSP00000430587.1:p.Met49Thr
ENST00000647330.1:c.143T>C	ENSP00000494308.1:p.Met48Thr
ENST00000647433.1:c.308T>C	ENSP00000494675.1:p.Met103Thr
XM_011537572.1:c.272T>C	XP_011535874.1:p.Met91Thr
XM_011537573.1:c.242T>C	XP_011535875.1:p.Met81Thr
XM_024454384.1:c.308T>C	XP_024310152.1:p.Met103Thr
XM_024454385.1:c.281T>C	XP_024310153.1:p.Met94Thr
XM_024454386.1:c.272T>C	XP_024310154.1:p.Met91Thr
XM_024454387.1:c.242T>C	XP_024310155.1:p.Met81Thr