Canonical Allele Identifier: CA361575544

Gene: DIAPH1

Linked Data

• MyVariant Identifiers: chr5:g.140903773C>A (hg19) ; chr5:g.141524206C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.141524206C>A , CM000667.2:g.141524206C>A	GRCh38
NC_000005.9:g.140903773C>A , CM000667.1:g.140903773C>A	GRCh37
NC_000005.8:g.140883957C>A	NCBI36
NG_011594.1:g.99850G>T
NG_011594.2:g.99850G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389054.8:c.3598G>T MANE Select	ENSP00000373706.4:p.Asp1200Tyr
ENST00000448451.6:c.4G>T	ENSP00000408159.2:p.Asp2Tyr
ENST00000643312.1:c.4G>T	ENSP00000495191.1:p.Asp2Tyr
ENST00000643718.1:n.78G>T
ENST00000647433.1:c.3598G>T	ENSP00000494675.1:p.Asp1200Tyr
ENST00000253811.10:c.3466G>T	ENSP00000253811.7:p.Asp1156Tyr
ENST00000389054.7:c.3598G>T	ENSP00000373706.4:p.Asp1200Tyr
ENST00000389057.9:c.3571G>T	ENSP00000373709.6:p.Asp1191Tyr
ENST00000398557.8:c.3598G>T	ENSP00000381565.5:p.Asp1200Tyr
ENST00000448451.5:c.134G>T
ENST00000468119.3:n.119G>T
ENST00000476339.1:n.550G>T
ENST00000518047.5:c.3571G>T	ENSP00000428268.2:p.Asp1191Tyr
NM_001079812.2:c.3571G>T	NP_001073280.1:p.Asp1191Tyr
NM_001314007.1:c.3598G>T	NP_001300936.1:p.Asp1200Tyr
NM_005219.4:c.3598G>T	NP_005210.3:p.Asp1200Tyr
XM_011537572.1:c.3562G>T	XP_011535874.1:p.Asp1188Tyr
XM_011537573.1:c.3532G>T	XP_011535875.1:p.Asp1178Tyr
XM_024454384.1:c.3721G>T	XP_024310152.1:p.Asp1241Tyr
XM_024454385.1:c.3694G>T	XP_024310153.1:p.Asp1232Tyr
XM_024454386.1:c.3685G>T	XP_024310154.1:p.Asp1229Tyr
XM_024454387.1:c.3655G>T	XP_024310155.1:p.Asp1219Tyr
NM_005219.5:c.3598G>T MANE Select	NP_005210.3:p.Asp1200Tyr
NM_001079812.3:c.3571G>T	NP_001073280.1:p.Asp1191Tyr
NM_001314007.2:c.3598G>T	NP_001300936.1:p.Asp1200Tyr