Canonical Allele Identifier: CA361575392

Gene: DIAPH1

Linked Data

• MyVariant Identifiers: chr5:g.140903752G>A (hg19) ; chr5:g.141524185G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.141524185G>A , CM000667.2:g.141524185G>A	GRCh38
NC_000005.9:g.140903752G>A , CM000667.1:g.140903752G>A	GRCh37
NC_000005.8:g.140883936G>A	NCBI36
NG_011594.1:g.99871C>T
NG_011594.2:g.99871C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389054.8:c.3619C>T MANE Select	ENSP00000373706.4:p.Gln1207Ter
ENST00000448451.6:c.25C>T	ENSP00000408159.2:p.Gln9Ter
ENST00000643312.1:c.25C>T	ENSP00000495191.1:p.Gln9Ter
ENST00000643718.1:n.99C>T
ENST00000647433.1:c.3619C>T	ENSP00000494675.1:p.Gln1207Ter
ENST00000253811.10:c.3487C>T	ENSP00000253811.7:p.Gln1163Ter
ENST00000389054.7:c.3619C>T	ENSP00000373706.4:p.Gln1207Ter
ENST00000389057.9:c.3592C>T	ENSP00000373709.6:p.Gln1198Ter
ENST00000398557.8:c.3619C>T	ENSP00000381565.5:p.Gln1207Ter
ENST00000448451.5:c.155C>T
ENST00000468119.3:n.140C>T
ENST00000476339.1:n.571C>T
ENST00000518047.5:c.3592C>T	ENSP00000428268.2:p.Gln1198Ter
NM_001079812.2:c.3592C>T	NP_001073280.1:p.Gln1198Ter
NM_001314007.1:c.3619C>T	NP_001300936.1:p.Gln1207Ter
NM_005219.4:c.3619C>T	NP_005210.3:p.Gln1207Ter
XM_011537572.1:c.3583C>T	XP_011535874.1:p.Gln1195Ter
XM_011537573.1:c.3553C>T	XP_011535875.1:p.Gln1185Ter
XM_024454384.1:c.3742C>T	XP_024310152.1:p.Gln1248Ter
XM_024454385.1:c.3715C>T	XP_024310153.1:p.Gln1239Ter
XM_024454386.1:c.3706C>T	XP_024310154.1:p.Gln1236Ter
XM_024454387.1:c.3676C>T	XP_024310155.1:p.Gln1226Ter
NM_005219.5:c.3619C>T MANE Select	NP_005210.3:p.Gln1207Ter
NM_001079812.3:c.3592C>T	NP_001073280.1:p.Gln1198Ter
NM_001314007.2:c.3619C>T	NP_001300936.1:p.Gln1207Ter