Canonical Allele Identifier: CA446854627

Gene: DIAPH1

Linked Data

• dbSNP Id: rs2099886959
• MyVariant Identifiers: chr5:g.140903756G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.141524189G>A , CM000667.2:g.141524189G>A	GRCh38
NC_000005.9:g.140903756G>A , CM000667.1:g.140903756G>A	GRCh37
NC_000005.8:g.140883940G>A	NCBI36
NG_011594.1:g.99867C>T
NG_011594.2:g.99867C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389054.8:c.3615C>T MANE Select	ENSP00000373706.4:p.Ala1205=
ENST00000448451.6:c.21C>T	ENSP00000408159.2:p.Ala7=
ENST00000643312.1:c.21C>T	ENSP00000495191.1:p.Ala7=
ENST00000643718.1:n.95C>T
ENST00000647433.1:c.3615C>T	ENSP00000494675.1:p.Ala1205=
ENST00000253811.10:c.3483C>T	ENSP00000253811.7:p.Ala1161=
ENST00000389054.7:c.3615C>T	ENSP00000373706.4:p.Ala1205=
ENST00000389057.9:c.3588C>T	ENSP00000373709.6:p.Ala1196=
ENST00000398557.8:c.3615C>T	ENSP00000381565.5:p.Ala1205=
ENST00000448451.5:c.151C>T
ENST00000468119.3:n.136C>T
ENST00000476339.1:n.567C>T
ENST00000518047.5:c.3588C>T	ENSP00000428268.2:p.Ala1196=
NM_001079812.2:c.3588C>T	NP_001073280.1:p.Ala1196=
NM_001314007.1:c.3615C>T	NP_001300936.1:p.Ala1205=
NM_005219.4:c.3615C>T	NP_005210.3:p.Ala1205=
XM_011537572.1:c.3579C>T	XP_011535874.1:p.Ala1193=
XM_011537573.1:c.3549C>T	XP_011535875.1:p.Ala1183=
XM_024454384.1:c.3738C>T	XP_024310152.1:p.Ala1246=
XM_024454385.1:c.3711C>T	XP_024310153.1:p.Ala1237=
XM_024454386.1:c.3702C>T	XP_024310154.1:p.Ala1234=
XM_024454387.1:c.3672C>T	XP_024310155.1:p.Ala1224=
NM_005219.5:c.3615C>T MANE Select	NP_005210.3:p.Ala1205=
NM_001079812.3:c.3588C>T	NP_001073280.1:p.Ala1196=
NM_001314007.2:c.3615C>T	NP_001300936.1:p.Ala1205=