Canonical Allele Identifier: CA361575535

Gene: DIAPH1

Linked Data

• MyVariant Identifiers: chr5:g.140903772T>C (hg19) ; chr5:g.141524205T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.141524205T>C , CM000667.2:g.141524205T>C	GRCh38
NC_000005.9:g.140903772T>C , CM000667.1:g.140903772T>C	GRCh37
NC_000005.8:g.140883956T>C	NCBI36
NG_011594.1:g.99851A>G
NG_011594.2:g.99851A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389054.8:c.3599A>G MANE Select	ENSP00000373706.4:p.Asp1200Gly
ENST00000448451.6:c.5A>G	ENSP00000408159.2:p.Asp2Gly
ENST00000643312.1:c.5A>G	ENSP00000495191.1:p.Asp2Gly
ENST00000643718.1:n.79A>G
ENST00000647433.1:c.3599A>G	ENSP00000494675.1:p.Asp1200Gly
ENST00000253811.10:c.3467A>G	ENSP00000253811.7:p.Asp1156Gly
ENST00000389054.7:c.3599A>G	ENSP00000373706.4:p.Asp1200Gly
ENST00000389057.9:c.3572A>G	ENSP00000373709.6:p.Asp1191Gly
ENST00000398557.8:c.3599A>G	ENSP00000381565.5:p.Asp1200Gly
ENST00000448451.5:c.135A>G
ENST00000468119.3:n.120A>G
ENST00000476339.1:n.551A>G
ENST00000518047.5:c.3572A>G	ENSP00000428268.2:p.Asp1191Gly
NM_001079812.2:c.3572A>G	NP_001073280.1:p.Asp1191Gly
NM_001314007.1:c.3599A>G	NP_001300936.1:p.Asp1200Gly
NM_005219.4:c.3599A>G	NP_005210.3:p.Asp1200Gly
XM_011537572.1:c.3563A>G	XP_011535874.1:p.Asp1188Gly
XM_011537573.1:c.3533A>G	XP_011535875.1:p.Asp1178Gly
XM_024454384.1:c.3722A>G	XP_024310152.1:p.Asp1241Gly
XM_024454385.1:c.3695A>G	XP_024310153.1:p.Asp1232Gly
XM_024454386.1:c.3686A>G	XP_024310154.1:p.Asp1229Gly
XM_024454387.1:c.3656A>G	XP_024310155.1:p.Asp1219Gly
NM_005219.5:c.3599A>G MANE Select	NP_005210.3:p.Asp1200Gly
NM_001079812.3:c.3572A>G	NP_001073280.1:p.Asp1191Gly
NM_001314007.2:c.3599A>G	NP_001300936.1:p.Asp1200Gly