Canonical Allele Identifier: CA3479179

Gene: DIAPH1

Linked Data

• ClinVar Variation Id: 475700
• ClinVar RCV Id: RCV000531978
• dbSNP Id: rs751847293
• ExAC: 5:140953408 G / A
• gnomAD v2: 5-140953408-G-A
• gnomAD v3: 5-141573841-G-A
• gnomAD v4: 5-141573841-G-A
• MyVariant Identifiers: chr5:g.140953408G>A (hg19) ; chr5:g.141573841G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.141573841G>A , CM000667.2:g.141573841G>A	GRCh38
NC_000005.9:g.140953408G>A , CM000667.1:g.140953408G>A	GRCh37
NC_000005.8:g.140933592G>A	NCBI36
NG_011594.1:g.50215C>T
NG_011594.2:g.50215C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389054.8:c.2009C>T MANE Select	ENSP00000373706.4:p.Pro670Leu
ENST00000647433.1:c.2009C>T	ENSP00000494675.1:p.Pro670Leu
ENST00000253811.10:c.1877C>T	ENSP00000253811.7:p.Pro626Leu
ENST00000389054.7:c.2009C>T	ENSP00000373706.4:p.Pro670Leu
ENST00000389057.9:c.1982C>T	ENSP00000373709.6:p.Pro661Leu
ENST00000398557.8:c.2009C>T	ENSP00000381565.5:p.Pro670Leu
ENST00000518047.5:c.1982C>T	ENSP00000428268.2:p.Pro661Leu
NM_001079812.2:c.1982C>T	NP_001073280.1:p.Pro661Leu
NM_001314007.1:c.2009C>T	NP_001300936.1:p.Pro670Leu
NM_005219.4:c.2009C>T	NP_005210.3:p.Pro670Leu
XM_011537572.1:c.1973C>T	XP_011535874.1:p.Pro658Leu
XM_011537573.1:c.1943C>T	XP_011535875.1:p.Pro648Leu
XM_024454384.1:c.2009C>T	XP_024310152.1:p.Pro670Leu
XM_024454385.1:c.1982C>T	XP_024310153.1:p.Pro661Leu
XM_024454386.1:c.1973C>T	XP_024310154.1:p.Pro658Leu
XM_024454387.1:c.1943C>T	XP_024310155.1:p.Pro648Leu
NM_005219.5:c.2009C>T MANE Select	NP_005210.3:p.Pro670Leu
NM_001079812.3:c.1982C>T	NP_001073280.1:p.Pro661Leu
NM_001314007.2:c.2009C>T	NP_001300936.1:p.Pro670Leu