Canonical Allele Identifier: CA361520999

Gene: DIAPH1

Linked Data

• ClinVar Variation Id: 1372330
• ClinVar RCV Id: RCV001872903
• dbSNP Id: rs779887319
• MyVariant Identifiers: chr5:g.140953609C>G (hg19) ; chr5:g.141574042C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.141574042C>G , CM000667.2:g.141574042C>G	GRCh38
NC_000005.9:g.140953609C>G , CM000667.1:g.140953609C>G	GRCh37
NC_000005.8:g.140933793C>G	NCBI36
NG_011594.1:g.50014G>C
NG_011594.2:g.50014G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389054.8:c.1808G>C MANE Select	ENSP00000373706.4:p.Gly603Ala
ENST00000647330.1:c.1785G>C	ENSP00000494308.1:n.1785G>C
ENST00000647433.1:c.1808G>C	ENSP00000494675.1:p.Gly603Ala
ENST00000253811.10:c.1676G>C	ENSP00000253811.7:p.Gly559Ala
ENST00000389054.7:c.1808G>C	ENSP00000373706.4:p.Gly603Ala
ENST00000389057.9:c.1781G>C	ENSP00000373709.6:p.Gly594Ala
ENST00000398557.8:c.1808G>C	ENSP00000381565.5:p.Gly603Ala
ENST00000518047.5:c.1781G>C	ENSP00000428268.2:p.Gly594Ala
NM_001079812.2:c.1781G>C	NP_001073280.1:p.Gly594Ala
NM_001314007.1:c.1808G>C	NP_001300936.1:p.Gly603Ala
NM_005219.4:c.1808G>C	NP_005210.3:p.Gly603Ala
XM_011537572.1:c.1772G>C	XP_011535874.1:p.Gly591Ala
XM_011537573.1:c.1742G>C	XP_011535875.1:p.Gly581Ala
XM_024454384.1:c.1808G>C	XP_024310152.1:p.Gly603Ala
XM_024454385.1:c.1781G>C	XP_024310153.1:p.Gly594Ala
XM_024454386.1:c.1772G>C	XP_024310154.1:p.Gly591Ala
XM_024454387.1:c.1742G>C	XP_024310155.1:p.Gly581Ala
NM_005219.5:c.1808G>C MANE Select	NP_005210.3:p.Gly603Ala
NM_001079812.3:c.1781G>C	NP_001073280.1:p.Gly594Ala
NM_001314007.2:c.1808G>C	NP_001300936.1:p.Gly603Ala