Canonical Allele Identifier: CA249975

Gene: DPH1

Linked Data

• ClinVar Variation Id: 183359
• ClinVar RCV Id: RCV000162191 ; RCV000210874 ; RCV003147374
• dbSNP Id: rs730882250
• gnomAD v2: 17-1943054-T-C
• MyVariant Identifiers: chr17:g.1943054T>C (hg19) ; chr17:g.2039760T>C (hg38)
• PubMed: PMID:25558065

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.2039760T>C , CM000679.2:g.2039760T>C	GRCh38
NC_000017.10:g.1943054T>C , CM000679.1:g.1943054T>C	GRCh37
NC_000017.9:g.1889804T>C	NCBI36
NG_051946.1:g.14649T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263083.12:c.686T>C MANE Select	ENSP00000263083.7:p.Leu229Pro
ENST00000570477.6:c.461T>C	ENSP00000458726.1:p.Leu154Pro
ENST00000570867.6:n.796T>C
ENST00000571418.7:c.653T>C	ENSP00000458838.2:p.Leu218Pro
ENST00000572214.6:n.68T>C
ENST00000575667.6:c.575T>C
ENST00000674200.2:c.701T>C	ENSP00000501368.1:p.Leu234Pro
ENST00000263083.10:c.701T>C	ENSP00000263083.6:p.Leu234Pro
ENST00000570477.5:c.461T>C	ENSP00000458726.1:p.Leu154Pro
ENST00000570833.5:c.531T>C	ENSP00000467936.1:n.531T>C
ENST00000570867.5:n.796T>C
ENST00000571418.5:c.664T>C
ENST00000572214.5:n.68T>C
ENST00000575667.5:c.575T>C
ENST00000575998.1:n.208T>C
NM_001383.3:c.701T>C	NP_001374.3:p.Leu234Pro
NM_001346574.1:c.701T>C	NP_001333503.1:p.Leu234Pro
NM_001346575.1:c.668T>C	NP_001333504.1:p.Leu223Pro
NM_001346576.1:c.281T>C	NP_001333505.1:p.Leu94Pro
NM_001383.4:c.701T>C	NP_001374.3:p.Leu234Pro
NR_144474.1:n.1100T>C
NR_144475.1:n.1067T>C
NR_144476.1:n.1126T>C
NM_001383.5:c.686T>C	NP_001374.4:p.Leu229Pro
NM_001346576.2:c.281T>C	NP_001333505.1:p.Leu94Pro
NM_001383.6:c.686T>C MANE Select	NP_001374.4:p.Leu229Pro
NR_144474.2:n.1059T>C
NR_144475.2:n.1026T>C
NR_144476.2:n.1085T>C