Canonical Allele Identifier: CA397604337

Gene: DPH1

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.2039775T>C , CM000679.2:g.2039775T>C	GRCh38
NC_000017.10:g.1943069T>C , CM000679.1:g.1943069T>C	GRCh37
NC_000017.9:g.1889819T>C	NCBI36
NG_051946.1:g.14664T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263083.12:c.701T>C MANE Select	ENSP00000263083.7:p.Phe234Ser
ENST00000570477.6:c.476T>C	ENSP00000458726.1:p.Phe159Ser
ENST00000570867.6:n.811T>C
ENST00000571418.7:c.668T>C	ENSP00000458838.2:p.Phe223Ser
ENST00000572214.6:n.83T>C
ENST00000575667.6:c.590T>C
ENST00000674200.2:c.716T>C	ENSP00000501368.1:p.Phe239Ser
ENST00000263083.10:c.716T>C	ENSP00000263083.6:p.Phe239Ser
ENST00000570477.5:c.476T>C	ENSP00000458726.1:p.Phe159Ser
ENST00000570833.5:c.546T>C	ENSP00000467936.1:n.546T>C
ENST00000570867.5:n.811T>C
ENST00000571418.5:c.679T>C
ENST00000572214.5:n.83T>C
ENST00000575667.5:c.590T>C
ENST00000575998.1:n.223T>C
NM_001383.3:c.716T>C	NP_001374.3:p.Phe239Ser
NM_001346574.1:c.716T>C	NP_001333503.1:p.Phe239Ser
NM_001346575.1:c.683T>C	NP_001333504.1:p.Phe228Ser
NM_001346576.1:c.296T>C	NP_001333505.1:p.Phe99Ser
NM_001383.4:c.716T>C	NP_001374.3:p.Phe239Ser
NR_144474.1:n.1115T>C
NR_144475.1:n.1082T>C
NR_144476.1:n.1141T>C
NM_001383.5:c.701T>C	NP_001374.4:p.Phe234Ser
NM_001346576.2:c.296T>C	NP_001333505.1:p.Phe99Ser
NM_001383.6:c.701T>C MANE Select	NP_001374.4:p.Phe234Ser
NR_144474.2:n.1074T>C
NR_144475.2:n.1041T>C
NR_144476.2:n.1100T>C