Canonical Allele Identifier: CA3478989

Gene: DIAPH1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.141529634T>A , CM000667.2:g.141529634T>A	GRCh38
NC_000005.9:g.140909201T>A , CM000667.1:g.140909201T>A	GRCh37
NC_000005.8:g.140889385T>A	NCBI36
NG_011594.1:g.94422A>T
NG_011594.2:g.94422A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_005219.5:c.2645A>T MANE Select	NP_005210.3:p.Asn882Ile
ENST00000389054.8:c.2645A>T MANE Select	ENSP00000373706.4:p.Asn882Ile
NM_001079812.2:c.2618A>T	NP_001073280.1:p.Asn873Ile
NM_001079812.3:c.2618A>T	NP_001073280.1:p.Asn873Ile
NM_001314007.1:c.2645A>T	NP_001300936.1:p.Asn882Ile
NM_001314007.2:c.2645A>T	NP_001300936.1:p.Asn882Ile
NM_005219.4:c.2645A>T	NP_005210.3:p.Asn882Ile
ENST00000253811.10:c.2513A>T	ENSP00000253811.7:p.Asn838Ile
ENST00000389054.7:c.2645A>T	ENSP00000373706.4:p.Asn882Ile
ENST00000389057.9:c.2618A>T	ENSP00000373709.6:p.Asn873Ile
ENST00000398557.8:c.2645A>T	ENSP00000381565.5:p.Asn882Ile
ENST00000491754.5:n.177-361A>T
ENST00000494967.5:n.218A>T
ENST00000518047.5:c.2618A>T	ENSP00000428268.2:p.Asn873Ile
ENST00000518484.1:n.271A>T
ENST00000647433.1:c.2645A>T	ENSP00000494675.1:p.Asn882Ile
XM_011537572.1:c.2609A>T	XP_011535874.1:p.Asn870Ile
XM_011537573.1:c.2579A>T	XP_011535875.1:p.Asn860Ile
XM_024454384.1:c.2645A>T	XP_024310152.1:p.Asn882Ile
XM_024454385.1:c.2618A>T	XP_024310153.1:p.Asn873Ile
XM_024454386.1:c.2609A>T	XP_024310154.1:p.Asn870Ile
XM_024454387.1:c.2579A>T	XP_024310155.1:p.Asn860Ile