Canonical Allele Identifier: CA361575148

Gene: DIAPH1

Linked Data

• MyVariant Identifiers: chr5:g.140903730C>G (hg19) ; chr5:g.141524163C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.141524163C>G , CM000667.2:g.141524163C>G	GRCh38
NC_000005.9:g.140903730C>G , CM000667.1:g.140903730C>G	GRCh37
NC_000005.8:g.140883914C>G	NCBI36
NG_011594.1:g.99893G>C
NG_011594.2:g.99893G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389054.8:c.3641G>C MANE Select	ENSP00000373706.4:p.Arg1214Pro
ENST00000448451.6:c.47G>C	ENSP00000408159.2:p.Arg16Pro
ENST00000643312.1:c.47G>C	ENSP00000495191.1:p.Arg16Pro
ENST00000643718.1:n.121G>C
ENST00000647433.1:c.3641G>C	ENSP00000494675.1:p.Arg1214Pro
ENST00000253811.10:c.3509G>C	ENSP00000253811.7:p.Arg1170Pro
ENST00000389054.7:c.3641G>C	ENSP00000373706.4:p.Arg1214Pro
ENST00000389057.9:c.3614G>C	ENSP00000373709.6:p.Arg1205Pro
ENST00000398557.8:c.3641G>C	ENSP00000381565.5:p.Arg1214Pro
ENST00000448451.5:c.177G>C
ENST00000468119.3:n.162G>C
ENST00000476339.1:n.593G>C
ENST00000518047.5:c.3614G>C	ENSP00000428268.2:p.Arg1205Pro
NM_001079812.2:c.3614G>C	NP_001073280.1:p.Arg1205Pro
NM_001314007.1:c.3641G>C	NP_001300936.1:p.Arg1214Pro
NM_005219.4:c.3641G>C	NP_005210.3:p.Arg1214Pro
XM_011537572.1:c.3605G>C	XP_011535874.1:p.Arg1202Pro
XM_011537573.1:c.3575G>C	XP_011535875.1:p.Arg1192Pro
XM_024454384.1:c.3764G>C	XP_024310152.1:p.Arg1255Pro
XM_024454385.1:c.3737G>C	XP_024310153.1:p.Arg1246Pro
XM_024454386.1:c.3728G>C	XP_024310154.1:p.Arg1243Pro
XM_024454387.1:c.3698G>C	XP_024310155.1:p.Arg1233Pro
NM_005219.5:c.3641G>C MANE Select	NP_005210.3:p.Arg1214Pro
NM_001079812.3:c.3614G>C	NP_001073280.1:p.Arg1205Pro
NM_001314007.2:c.3641G>C	NP_001300936.1:p.Arg1214Pro