Canonical Allele Identifier: CA3479238

Gene: DIAPH1

Linked Data

• ClinVar Variation Id: 1062081
• ClinVar RCV Id: RCV001371755 ; RCV003284284
• dbSNP Id: rs528268486
• ExAC: 5:140953769 T / G
• gnomAD v2: 5-140953769-T-G
• gnomAD v3: 5-141574202-T-G
• gnomAD v4: 5-141574202-T-G
• MyVariant Identifiers: chr5:g.140953769T>G (hg19) ; chr5:g.141574202T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.141574202T>G , CM000667.2:g.141574202T>G	GRCh38
NC_000005.9:g.140953769T>G , CM000667.1:g.140953769T>G	GRCh37
NC_000005.8:g.140933953T>G	NCBI36
NG_011594.1:g.49854A>C
NG_011594.2:g.49854A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389054.8:c.1648A>C MANE Select	ENSP00000373706.4:p.Lys550Gln
ENST00000647330.1:c.1625A>C	ENSP00000494308.1:n.1625A>C
ENST00000647433.1:c.1648A>C	ENSP00000494675.1:p.Lys550Gln
ENST00000253811.10:c.1516A>C	ENSP00000253811.7:p.Lys506Gln
ENST00000389054.7:c.1648A>C	ENSP00000373706.4:p.Lys550Gln
ENST00000389057.9:c.1621A>C	ENSP00000373709.6:p.Lys541Gln
ENST00000398557.8:c.1648A>C	ENSP00000381565.5:p.Lys550Gln
ENST00000518047.5:c.1621A>C	ENSP00000428268.2:p.Lys541Gln
NM_001079812.2:c.1621A>C	NP_001073280.1:p.Lys541Gln
NM_001314007.1:c.1648A>C	NP_001300936.1:p.Lys550Gln
NM_005219.4:c.1648A>C	NP_005210.3:p.Lys550Gln
XM_011537572.1:c.1612A>C	XP_011535874.1:p.Lys538Gln
XM_011537573.1:c.1582A>C	XP_011535875.1:p.Lys528Gln
XM_024454384.1:c.1648A>C	XP_024310152.1:p.Lys550Gln
XM_024454385.1:c.1621A>C	XP_024310153.1:p.Lys541Gln
XM_024454386.1:c.1612A>C	XP_024310154.1:p.Lys538Gln
XM_024454387.1:c.1582A>C	XP_024310155.1:p.Lys528Gln
NM_005219.5:c.1648A>C MANE Select	NP_005210.3:p.Lys550Gln
NM_001079812.3:c.1621A>C	NP_001073280.1:p.Lys541Gln
NM_001314007.2:c.1648A>C	NP_001300936.1:p.Lys550Gln