Canonical Allele Identifier: CA361519364

Gene: DIAPH1

Linked Data

• ClinVar Variation Id: 907376
• ClinVar RCV Id: RCV001157173
• dbSNP Id: rs2099895558
• MyVariant Identifiers: chr5:g.140953426G>C (hg19) ; chr5:g.141573859G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.141573859G>C , CM000667.2:g.141573859G>C	GRCh38
NC_000005.9:g.140953426G>C , CM000667.1:g.140953426G>C	GRCh37
NC_000005.8:g.140933610G>C	NCBI36
NG_011594.1:g.50197C>G
NG_011594.2:g.50197C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389054.8:c.1991C>G MANE Select	ENSP00000373706.4:p.Pro664Arg
ENST00000647433.1:c.1991C>G	ENSP00000494675.1:p.Pro664Arg
ENST00000253811.10:c.1859C>G	ENSP00000253811.7:p.Pro620Arg
ENST00000389054.7:c.1991C>G	ENSP00000373706.4:p.Pro664Arg
ENST00000389057.9:c.1964C>G	ENSP00000373709.6:p.Pro655Arg
ENST00000398557.8:c.1991C>G	ENSP00000381565.5:p.Pro664Arg
ENST00000518047.5:c.1964C>G	ENSP00000428268.2:p.Pro655Arg
NM_001079812.2:c.1964C>G	NP_001073280.1:p.Pro655Arg
NM_001314007.1:c.1991C>G	NP_001300936.1:p.Pro664Arg
NM_005219.4:c.1991C>G	NP_005210.3:p.Pro664Arg
XM_011537572.1:c.1955C>G	XP_011535874.1:p.Pro652Arg
XM_011537573.1:c.1925C>G	XP_011535875.1:p.Pro642Arg
XM_024454384.1:c.1991C>G	XP_024310152.1:p.Pro664Arg
XM_024454385.1:c.1964C>G	XP_024310153.1:p.Pro655Arg
XM_024454386.1:c.1955C>G	XP_024310154.1:p.Pro652Arg
XM_024454387.1:c.1925C>G	XP_024310155.1:p.Pro642Arg
NM_005219.5:c.1991C>G MANE Select	NP_005210.3:p.Pro664Arg
NM_001079812.3:c.1964C>G	NP_001073280.1:p.Pro655Arg
NM_001314007.2:c.1991C>G	NP_001300936.1:p.Pro664Arg