Canonical Allele Identifier: CA361518509
Gene: DIAPH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2937056
ClinVar RCV Id: RCV003791246
dbSNP Id: rs1292892436

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.141573782G>A , CM000667.2:g.141573782G>A GRCh38
NC_000005.9:g.140953349G>A , CM000667.1:g.140953349G>A GRCh37
NC_000005.8:g.140933533G>A NCBI36
NG_011594.1:g.50274C>T
NG_011594.2:g.50274C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000389054.8:c.2068C>T MANE Select ENSP00000373706.4:p.Pro690Ser
ENST00000647433.1:c.2068C>T ENSP00000494675.1:p.Pro690Ser
ENST00000253811.10:c.1936C>T ENSP00000253811.7:p.Pro646Ser
ENST00000389054.7:c.2068C>T ENSP00000373706.4:p.Pro690Ser
ENST00000389057.9:c.2041C>T ENSP00000373709.6:p.Pro681Ser
ENST00000398557.8:c.2068C>T ENSP00000381565.5:p.Pro690Ser
ENST00000518047.5:c.2041C>T ENSP00000428268.2:p.Pro681Ser
NM_001079812.2:c.2041C>T NP_001073280.1:p.Pro681Ser
NM_001314007.1:c.2068C>T NP_001300936.1:p.Pro690Ser
NM_005219.4:c.2068C>T NP_005210.3:p.Pro690Ser
XM_011537572.1:c.2032C>T XP_011535874.1:p.Pro678Ser
XM_011537573.1:c.2002C>T XP_011535875.1:p.Pro668Ser
XM_024454384.1:c.2068C>T XP_024310152.1:p.Pro690Ser
XM_024454385.1:c.2041C>T XP_024310153.1:p.Pro681Ser
XM_024454386.1:c.2032C>T XP_024310154.1:p.Pro678Ser
XM_024454387.1:c.2002C>T XP_024310155.1:p.Pro668Ser
NM_005219.5:c.2068C>T MANE Select NP_005210.3:p.Pro690Ser
NM_001079812.3:c.2041C>T NP_001073280.1:p.Pro681Ser
NM_001314007.2:c.2068C>T NP_001300936.1:p.Pro690Ser