Canonical Allele Identifier: CA8276945

Gene: DPH1

Linked Data

• ClinVar Variation Id: 521028
• ClinVar RCV Id: RCV000622588 ; RCV000677664 ; RCV001574312 ; RCV003928037
• dbSNP Id: rs200530055
• ExAC: 17:1939344 T / C
• gnomAD v2: 17-1939344-T-C
• gnomAD v3: 17-2036050-T-C
• gnomAD v4: 17-2036050-T-C
• MyVariant Identifiers: chr17:g.1939344T>C (hg19) ; chr17:g.2036050T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.2036050T>C , CM000679.2:g.2036050T>C	GRCh38
NC_000017.10:g.1939344T>C , CM000679.1:g.1939344T>C	GRCh37
NC_000017.9:g.1886094T>C	NCBI36
NG_051946.1:g.10939T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000263083.12:c.359T>C MANE Select	ENSP00000263083.7:p.Leu120Pro
ENST00000570477.6:c.134T>C	ENSP00000458726.1:p.Leu45Pro
ENST00000571418.7:c.359T>C	ENSP00000458838.2:p.Leu120Pro
ENST00000575667.6:c.290-479T>C
ENST00000674200.2:c.374T>C	ENSP00000501368.1:p.Leu125Pro
ENST00000263083.10:c.374T>C	ENSP00000263083.6:p.Leu125Pro
ENST00000570477.5:c.134T>C	ENSP00000458726.1:p.Leu45Pro
ENST00000570833.5:c.104T>C	ENSP00000467936.1:p.Leu35Pro
ENST00000571418.5:c.370T>C
ENST00000572819.6:n.362T>C
ENST00000575667.5:c.290-479T>C
ENST00000576129.5:n.343T>C
ENST00000576891.2:n.216T>C
NM_001383.3:c.374T>C	NP_001374.3:p.Leu125Pro
NM_001346574.1:c.374T>C	NP_001333503.1:p.Leu125Pro
NM_001346575.1:c.374T>C	NP_001333504.1:p.Leu125Pro
NM_001346576.1:c.-5-479T>C	NP_001333505.1:n.-5-479T>C
NM_001383.4:c.374T>C	NP_001374.3:p.Leu125Pro
NR_144474.1:n.417T>C
NR_144475.1:n.417T>C
NR_144476.1:n.417T>C
NM_001383.5:c.359T>C	NP_001374.4:p.Leu120Pro
NM_001346576.2:c.-5-479T>C	NP_001333505.1:n.-5-479T>C
NM_001383.6:c.359T>C MANE Select	NP_001374.4:p.Leu120Pro
NR_144474.2:n.376T>C
NR_144475.2:n.376T>C
NR_144476.2:n.376T>C