Canonical Allele Identifier: CA361519048

Gene: DIAPH1

Linked Data

• ClinVar Variation Id: 1371136
• ClinVar RCV Id: RCV001878848
• dbSNP Id: rs2154596293
• gnomAD v3: 5-141573826-A-G
• gnomAD v4: 5-141573826-A-G
• MyVariant Identifiers: chr5:g.140953393A>G (hg19) ; chr5:g.141573826A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.141573826A>G , CM000667.2:g.141573826A>G	GRCh38
NC_000005.9:g.140953393A>G , CM000667.1:g.140953393A>G	GRCh37
NC_000005.8:g.140933577A>G	NCBI36
NG_011594.1:g.50230T>C
NG_011594.2:g.50230T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389054.8:c.2024T>C MANE Select	ENSP00000373706.4:p.Ile675Thr
ENST00000647433.1:c.2024T>C	ENSP00000494675.1:p.Ile675Thr
ENST00000253811.10:c.1892T>C	ENSP00000253811.7:p.Ile631Thr
ENST00000389054.7:c.2024T>C	ENSP00000373706.4:p.Ile675Thr
ENST00000389057.9:c.1997T>C	ENSP00000373709.6:p.Ile666Thr
ENST00000398557.8:c.2024T>C	ENSP00000381565.5:p.Ile675Thr
ENST00000518047.5:c.1997T>C	ENSP00000428268.2:p.Ile666Thr
NM_001079812.2:c.1997T>C	NP_001073280.1:p.Ile666Thr
NM_001314007.1:c.2024T>C	NP_001300936.1:p.Ile675Thr
NM_005219.4:c.2024T>C	NP_005210.3:p.Ile675Thr
XM_011537572.1:c.1988T>C	XP_011535874.1:p.Ile663Thr
XM_011537573.1:c.1958T>C	XP_011535875.1:p.Ile653Thr
XM_024454384.1:c.2024T>C	XP_024310152.1:p.Ile675Thr
XM_024454385.1:c.1997T>C	XP_024310153.1:p.Ile666Thr
XM_024454386.1:c.1988T>C	XP_024310154.1:p.Ile663Thr
XM_024454387.1:c.1958T>C	XP_024310155.1:p.Ile653Thr
NM_005219.5:c.2024T>C MANE Select	NP_005210.3:p.Ile675Thr
NM_001079812.3:c.1997T>C	NP_001073280.1:p.Ile666Thr
NM_001314007.2:c.2024T>C	NP_001300936.1:p.Ile675Thr