Canonical Allele Identifier: CA361544106
Gene: DIAPH1 HGNC NCBI
ClinVar RCV:
ClinVar Variation:
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.141584209T>C , CM000667.2:g.141584209T>C GRCh38
NC_000005.9:g.140963776T>C , CM000667.1:g.140963776T>C GRCh37
NC_000005.8:g.140943960T>C NCBI36
NG_011594.1:g.39847A>G
NG_011594.2:g.39847A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000389054.8:c.317A>G MANE Select ENSP00000373706.4:p.Asn106Ser
ENST00000647330.1:c.152A>G ENSP00000494308.1:p.Asn51Ser
ENST00000647433.1:c.317A>G ENSP00000494675.1:p.Asn106Ser
ENST00000253811.10:c.185A>G ENSP00000253811.7:p.Asn62Ser
ENST00000389054.7:c.317A>G ENSP00000373706.4:p.Asn106Ser
ENST00000389057.9:c.290A>G ENSP00000373709.6:p.Asn97Ser
ENST00000398557.8:c.317A>G ENSP00000381565.5:p.Asn106Ser
ENST00000518047.5:c.290A>G ENSP00000428268.2:p.Asn97Ser
ENST00000523100.5:c.317A>G ENSP00000428208.1:p.Asn106Ser
ENST00000524301.1:c.155A>G ENSP00000430587.1:p.Asn52Ser
NM_001079812.2:c.290A>G NP_001073280.1:p.Asn97Ser
NM_001314007.1:c.317A>G NP_001300936.1:p.Asn106Ser
NM_005219.4:c.317A>G NP_005210.3:p.Asn106Ser
XM_011537572.1:c.281A>G XP_011535874.1:p.Asn94Ser
XM_011537573.1:c.251A>G XP_011535875.1:p.Asn84Ser
XM_024454384.1:c.317A>G XP_024310152.1:p.Asn106Ser
XM_024454385.1:c.290A>G XP_024310153.1:p.Asn97Ser
XM_024454386.1:c.281A>G XP_024310154.1:p.Asn94Ser
XM_024454387.1:c.251A>G XP_024310155.1:p.Asn84Ser
NM_005219.5:c.317A>G MANE Select NP_005210.3:p.Asn106Ser
NM_001079812.3:c.290A>G NP_001073280.1:p.Asn97Ser
NM_001314007.2:c.317A>G NP_001300936.1:p.Asn106Ser