Canonical Allele Identifier: CA128419906

Gene: DIAPH1

Linked Data

• dbSNP Id: rs530345350
• gnomAD v2: 5-140894691-C-T
• gnomAD v3: 5-141515124-C-T
• gnomAD v4: 5-141515124-C-T
• MyVariant Identifiers: chr5:g.140894691C>T (hg19) ; chr5:g.141515124C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.141515124C>T , CM000667.2:g.141515124C>T	GRCh38
NC_000005.9:g.140894691C>T , CM000667.1:g.140894691C>T	GRCh37
NC_000005.8:g.140874875C>T	NCBI36
NG_011594.1:g.108932G>A
NG_011594.2:g.108932G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389054.8:c.*1727G>A MANE Select	ENSP00000373706.4:n.*1727G>A
ENST00000448451.6:c.*1727G>A	ENSP00000408159.2:n.*1727G>A
ENST00000643718.1:n.2177G>A
ENST00000647433.1:c.*1846G>A	ENSP00000494675.1:n.*1846G>A
ENST00000253811.10:c.*1727G>A	ENSP00000253811.7:n.*1727G>A
ENST00000389054.7:c.*1727G>A	ENSP00000373706.4:n.*1727G>A
ENST00000389057.9:c.*1727G>A	ENSP00000373709.6:n.*1727G>A
ENST00000398557.8:c.*1727G>A	ENSP00000381565.5:n.*1727G>A
ENST00000476339.1:n.2498G>A
NM_001079812.2:c.*1727G>A	NP_001073280.1:n.*1727G>A
NM_001314007.1:c.*1846G>A	NP_001300936.1:n.*1846G>A
NM_005219.4:c.*1727G>A	NP_005210.3:n.*1727G>A
XM_011537572.1:c.*1727G>A	XP_011535874.1:n.*1727G>A
XM_011537573.1:c.*1727G>A	XP_011535875.1:n.*1727G>A
XM_024454384.1:c.*1727G>A	XP_024310152.1:n.*1727G>A
XM_024454385.1:c.*1727G>A	XP_024310153.1:n.*1727G>A
XM_024454386.1:c.*1727G>A	XP_024310154.1:n.*1727G>A
XM_024454387.1:c.*1727G>A	XP_024310155.1:n.*1727G>A
NM_005219.5:c.*1727G>A MANE Select	NP_005210.3:n.*1727G>A
NM_001079812.3:c.*1727G>A	NP_001073280.1:n.*1727G>A
NM_001314007.2:c.*1846G>A	NP_001300936.1:n.*1846G>A