Canonical Allele Identifier: CA361575321

Gene: DIAPH1

Linked Data

• MyVariant Identifiers: chr5:g.140903748G>C (hg19) ; chr5:g.141524181G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.141524181G>C , CM000667.2:g.141524181G>C	GRCh38
NC_000005.9:g.140903748G>C , CM000667.1:g.140903748G>C	GRCh37
NC_000005.8:g.140883932G>C	NCBI36
NG_011594.1:g.99875C>G
NG_011594.2:g.99875C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389054.8:c.3623C>G MANE Select	ENSP00000373706.4:p.Ser1208Ter
ENST00000448451.6:c.29C>G	ENSP00000408159.2:p.Ser10Ter
ENST00000643312.1:c.29C>G	ENSP00000495191.1:p.Ser10Ter
ENST00000643718.1:n.103C>G
ENST00000647433.1:c.3623C>G	ENSP00000494675.1:p.Ser1208Ter
ENST00000253811.10:c.3491C>G	ENSP00000253811.7:p.Ser1164Ter
ENST00000389054.7:c.3623C>G	ENSP00000373706.4:p.Ser1208Ter
ENST00000389057.9:c.3596C>G	ENSP00000373709.6:p.Ser1199Ter
ENST00000398557.8:c.3623C>G	ENSP00000381565.5:p.Ser1208Ter
ENST00000448451.5:c.159C>G
ENST00000468119.3:n.144C>G
ENST00000476339.1:n.575C>G
ENST00000518047.5:c.3596C>G	ENSP00000428268.2:p.Ser1199Ter
NM_001079812.2:c.3596C>G	NP_001073280.1:p.Ser1199Ter
NM_001314007.1:c.3623C>G	NP_001300936.1:p.Ser1208Ter
NM_005219.4:c.3623C>G	NP_005210.3:p.Ser1208Ter
XM_011537572.1:c.3587C>G	XP_011535874.1:p.Ser1196Ter
XM_011537573.1:c.3557C>G	XP_011535875.1:p.Ser1186Ter
XM_024454384.1:c.3746C>G	XP_024310152.1:p.Ser1249Ter
XM_024454385.1:c.3719C>G	XP_024310153.1:p.Ser1240Ter
XM_024454386.1:c.3710C>G	XP_024310154.1:p.Ser1237Ter
XM_024454387.1:c.3680C>G	XP_024310155.1:p.Ser1227Ter
NM_005219.5:c.3623C>G MANE Select	NP_005210.3:p.Ser1208Ter
NM_001079812.3:c.3596C>G	NP_001073280.1:p.Ser1199Ter
NM_001314007.2:c.3623C>G	NP_001300936.1:p.Ser1208Ter