Canonical Allele Identifier: CA361518623

Gene: DIAPH1

Linked Data

• gnomAD v3: 5-141573791-T-G
• gnomAD v4: 5-141573791-T-G
• MyVariant Identifiers: chr5:g.140953358T>G (hg19) ; chr5:g.141573791T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.141573791T>G , CM000667.2:g.141573791T>G	GRCh38
NC_000005.9:g.140953358T>G , CM000667.1:g.140953358T>G	GRCh37
NC_000005.8:g.140933542T>G	NCBI36
NG_011594.1:g.50265A>C
NG_011594.2:g.50265A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389054.8:c.2059A>C MANE Select	ENSP00000373706.4:p.Ile687Leu
ENST00000647433.1:c.2059A>C	ENSP00000494675.1:p.Ile687Leu
ENST00000253811.10:c.1927A>C	ENSP00000253811.7:p.Ile643Leu
ENST00000389054.7:c.2059A>C	ENSP00000373706.4:p.Ile687Leu
ENST00000389057.9:c.2032A>C	ENSP00000373709.6:p.Ile678Leu
ENST00000398557.8:c.2059A>C	ENSP00000381565.5:p.Ile687Leu
ENST00000518047.5:c.2032A>C	ENSP00000428268.2:p.Ile678Leu
NM_001079812.2:c.2032A>C	NP_001073280.1:p.Ile678Leu
NM_001314007.1:c.2059A>C	NP_001300936.1:p.Ile687Leu
NM_005219.4:c.2059A>C	NP_005210.3:p.Ile687Leu
XM_011537572.1:c.2023A>C	XP_011535874.1:p.Ile675Leu
XM_011537573.1:c.1993A>C	XP_011535875.1:p.Ile665Leu
XM_024454384.1:c.2059A>C	XP_024310152.1:p.Ile687Leu
XM_024454385.1:c.2032A>C	XP_024310153.1:p.Ile678Leu
XM_024454386.1:c.2023A>C	XP_024310154.1:p.Ile675Leu
XM_024454387.1:c.1993A>C	XP_024310155.1:p.Ile665Leu
NM_005219.5:c.2059A>C MANE Select	NP_005210.3:p.Ile687Leu
NM_001079812.3:c.2032A>C	NP_001073280.1:p.Ile678Leu
NM_001314007.2:c.2059A>C	NP_001300936.1:p.Ile687Leu