Canonical Allele Identifier: CA397603773

Gene: DPH1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.2036565T>C , CM000679.2:g.2036565T>C	GRCh38
NC_000017.10:g.1939859T>C , CM000679.1:g.1939859T>C	GRCh37
NC_000017.9:g.1886609T>C	NCBI36
NG_051946.1:g.11454T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001383.6:c.437T>C MANE Select	NP_001374.4:p.Leu146Pro
ENST00000263083.12:c.437T>C MANE Select	ENSP00000263083.7:p.Leu146Pro
NM_001346574.1:c.452T>C	NP_001333503.1:p.Leu151Pro
NM_001346575.1:c.452T>C	NP_001333504.1:p.Leu151Pro
NM_001346576.1:c.32T>C	NP_001333505.1:p.Leu11Pro
NM_001346576.2:c.32T>C	NP_001333505.1:p.Leu11Pro
NM_001383.3:c.452T>C	NP_001374.3:p.Leu151Pro
NM_001383.4:c.452T>C	NP_001374.3:p.Leu151Pro
NM_001383.5:c.437T>C	NP_001374.4:p.Leu146Pro
NR_144474.1:n.495T>C
NR_144474.2:n.454T>C
NR_144475.1:n.495T>C
NR_144475.2:n.454T>C
NR_144476.1:n.495T>C
NR_144476.2:n.454T>C
ENST00000263083.10:c.452T>C	ENSP00000263083.6:p.Leu151Pro
ENST00000570477.5:c.212T>C	ENSP00000458726.1:p.Leu71Pro
ENST00000570477.6:c.212T>C	ENSP00000458726.1:p.Leu71Pro
ENST00000570833.5:c.282T>C	ENSP00000467936.1:n.282T>C
ENST00000571418.5:c.448T>C
ENST00000571418.7:c.437T>C	ENSP00000458838.2:p.Leu146Pro
ENST00000572819.6:n.877T>C
ENST00000575667.5:c.326T>C
ENST00000575667.6:c.326T>C
ENST00000576129.5:n.421T>C
ENST00000576891.2:n.294T>C
ENST00000674200.2:c.452T>C	ENSP00000501368.1:p.Leu151Pro