Canonical Allele Identifier: CA361522211

Gene: DIAPH1

Linked Data

• gnomAD v4: 5-141574175-T-C
• MyVariant Identifiers: chr5:g.140953742T>C (hg19) ; chr5:g.141574175T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.141574175T>C , CM000667.2:g.141574175T>C	GRCh38
NC_000005.9:g.140953742T>C , CM000667.1:g.140953742T>C	GRCh37
NC_000005.8:g.140933926T>C	NCBI36
NG_011594.1:g.49881A>G
NG_011594.2:g.49881A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389054.8:c.1675A>G MANE Select	ENSP00000373706.4:p.Lys559Glu
ENST00000647330.1:c.1652A>G	ENSP00000494308.1:n.1652A>G
ENST00000647433.1:c.1675A>G	ENSP00000494675.1:p.Lys559Glu
ENST00000253811.10:c.1543A>G	ENSP00000253811.7:p.Lys515Glu
ENST00000389054.7:c.1675A>G	ENSP00000373706.4:p.Lys559Glu
ENST00000389057.9:c.1648A>G	ENSP00000373709.6:p.Lys550Glu
ENST00000398557.8:c.1675A>G	ENSP00000381565.5:p.Lys559Glu
ENST00000518047.5:c.1648A>G	ENSP00000428268.2:p.Lys550Glu
NM_001079812.2:c.1648A>G	NP_001073280.1:p.Lys550Glu
NM_001314007.1:c.1675A>G	NP_001300936.1:p.Lys559Glu
NM_005219.4:c.1675A>G	NP_005210.3:p.Lys559Glu
XM_011537572.1:c.1639A>G	XP_011535874.1:p.Lys547Glu
XM_011537573.1:c.1609A>G	XP_011535875.1:p.Lys537Glu
XM_024454384.1:c.1675A>G	XP_024310152.1:p.Lys559Glu
XM_024454385.1:c.1648A>G	XP_024310153.1:p.Lys550Glu
XM_024454386.1:c.1639A>G	XP_024310154.1:p.Lys547Glu
XM_024454387.1:c.1609A>G	XP_024310155.1:p.Lys537Glu
NM_005219.5:c.1675A>G MANE Select	NP_005210.3:p.Lys559Glu
NM_001079812.3:c.1648A>G	NP_001073280.1:p.Lys550Glu
NM_001314007.2:c.1675A>G	NP_001300936.1:p.Lys559Glu