Canonical Allele Identifier: CA361575465

Gene: DIAPH1

Linked Data

• MyVariant Identifiers: chr5:g.140903764G>C (hg19) ; chr5:g.141524197G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.141524197G>C , CM000667.2:g.141524197G>C	GRCh38
NC_000005.9:g.140903764G>C , CM000667.1:g.140903764G>C	GRCh37
NC_000005.8:g.140883948G>C	NCBI36
NG_011594.1:g.99859C>G
NG_011594.2:g.99859C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389054.8:c.3607C>G MANE Select	ENSP00000373706.4:p.Leu1203Val
ENST00000448451.6:c.13C>G	ENSP00000408159.2:p.Leu5Val
ENST00000643312.1:c.13C>G	ENSP00000495191.1:p.Leu5Val
ENST00000643718.1:n.87C>G
ENST00000647433.1:c.3607C>G	ENSP00000494675.1:p.Leu1203Val
ENST00000253811.10:c.3475C>G	ENSP00000253811.7:p.Leu1159Val
ENST00000389054.7:c.3607C>G	ENSP00000373706.4:p.Leu1203Val
ENST00000389057.9:c.3580C>G	ENSP00000373709.6:p.Leu1194Val
ENST00000398557.8:c.3607C>G	ENSP00000381565.5:p.Leu1203Val
ENST00000448451.5:c.143C>G
ENST00000468119.3:n.128C>G
ENST00000476339.1:n.559C>G
ENST00000518047.5:c.3580C>G	ENSP00000428268.2:p.Leu1194Val
NM_001079812.2:c.3580C>G	NP_001073280.1:p.Leu1194Val
NM_001314007.1:c.3607C>G	NP_001300936.1:p.Leu1203Val
NM_005219.4:c.3607C>G	NP_005210.3:p.Leu1203Val
XM_011537572.1:c.3571C>G	XP_011535874.1:p.Leu1191Val
XM_011537573.1:c.3541C>G	XP_011535875.1:p.Leu1181Val
XM_024454384.1:c.3730C>G	XP_024310152.1:p.Leu1244Val
XM_024454385.1:c.3703C>G	XP_024310153.1:p.Leu1235Val
XM_024454386.1:c.3694C>G	XP_024310154.1:p.Leu1232Val
XM_024454387.1:c.3664C>G	XP_024310155.1:p.Leu1222Val
NM_005219.5:c.3607C>G MANE Select	NP_005210.3:p.Leu1203Val
NM_001079812.3:c.3580C>G	NP_001073280.1:p.Leu1194Val
NM_001314007.2:c.3607C>G	NP_001300936.1:p.Leu1203Val