Canonical Allele Identifier: CA361520075

Gene: DIAPH1

Linked Data

• ClinVar Variation Id: 1403451
• ClinVar RCV Id: RCV001925363 ; RCV003229902
• dbSNP Id: rs781398463
• gnomAD v4: 5-141573935-T-C
• MyVariant Identifiers: chr5:g.140953502T>C (hg19) ; chr5:g.141573935T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.141573935T>C , CM000667.2:g.141573935T>C	GRCh38
NC_000005.9:g.140953502T>C , CM000667.1:g.140953502T>C	GRCh37
NC_000005.8:g.140933686T>C	NCBI36
NG_011594.1:g.50121A>G
NG_011594.2:g.50121A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389054.8:c.1915A>G MANE Select	ENSP00000373706.4:p.Ile639Val
ENST00000647433.1:c.1915A>G	ENSP00000494675.1:p.Ile639Val
ENST00000253811.10:c.1783A>G	ENSP00000253811.7:p.Ile595Val
ENST00000389054.7:c.1915A>G	ENSP00000373706.4:p.Ile639Val
ENST00000389057.9:c.1888A>G	ENSP00000373709.6:p.Ile630Val
ENST00000398557.8:c.1915A>G	ENSP00000381565.5:p.Ile639Val
ENST00000518047.5:c.1888A>G	ENSP00000428268.2:p.Ile630Val
NM_001079812.2:c.1888A>G	NP_001073280.1:p.Ile630Val
NM_001314007.1:c.1915A>G	NP_001300936.1:p.Ile639Val
NM_005219.4:c.1915A>G	NP_005210.3:p.Ile639Val
XM_011537572.1:c.1879A>G	XP_011535874.1:p.Ile627Val
XM_011537573.1:c.1849A>G	XP_011535875.1:p.Ile617Val
XM_024454384.1:c.1915A>G	XP_024310152.1:p.Ile639Val
XM_024454385.1:c.1888A>G	XP_024310153.1:p.Ile630Val
XM_024454386.1:c.1879A>G	XP_024310154.1:p.Ile627Val
XM_024454387.1:c.1849A>G	XP_024310155.1:p.Ile617Val
NM_005219.5:c.1915A>G MANE Select	NP_005210.3:p.Ile639Val
NM_001079812.3:c.1888A>G	NP_001073280.1:p.Ile630Val
NM_001314007.2:c.1915A>G	NP_001300936.1:p.Ile639Val