Canonical Allele Identifier: CA3315444

Gene: PDE8B

Linked Data

• ClinVar Variation Id: 354170
• ClinVar RCV Id: RCV000299525 ; RCV000920963
• dbSNP Id: rs774632534
• ExAC: 5:76715697 G / A
• gnomAD v2: 5-76715697-G-A
• gnomAD v4: 5-77419872-G-A
• MyVariant Identifiers: chr5:g.76715697G>A (hg19) ; chr5:g.77419872G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.77419872G>A , CM000667.2:g.77419872G>A	GRCh38
NC_000005.9:g.76715697G>A , CM000667.1:g.76715697G>A	GRCh37
NC_000005.8:g.76751453G>A	NCBI36
NG_023364.1:g.213992G>A
NG_023364.2:g.244621G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264917.10:c.2235G>A MANE Select	ENSP00000264917.6:p.Lys745=
ENST00000646262.1:c.1863G>A	ENSP00000493971.1:p.Lys621=
ENST00000264917.9:c.2235G>A	ENSP00000264917.5:p.Lys745=
ENST00000333194.8:c.2070G>A	ENSP00000331336.4:p.Lys690=
ENST00000340978.7:c.2094G>A	ENSP00000345446.3:p.Lys698=
ENST00000342343.8:c.2175G>A	ENSP00000345646.4:p.Lys725=
ENST00000346042.7:c.1944G>A	ENSP00000330428.3:p.Lys648=
ENST00000505283.1:c.630G>A	ENSP00000423461.1:p.Lys210=
NM_001029851.2:c.1944G>A	NP_001025022.1:p.Lys648=
NM_001029852.2:c.2070G>A	NP_001025023.1:p.Lys690=
NM_001029853.2:c.2175G>A	NP_001025024.1:p.Lys725=
NM_001029854.2:c.2094G>A	NP_001025025.1:p.Lys698=
NM_003719.3:c.2235G>A	NP_003710.1:p.Lys745=
XM_005248621.3:c.2232G>A	XP_005248678.1:p.Lys744=
XM_005248623.3:c.1932G>A	XP_005248680.1:p.Lys644=
XM_005248624.3:c.1929G>A	XP_005248681.1:p.Lys643=
XM_006714725.2:c.2298G>A	XP_006714788.1:p.Lys766=
XM_006714726.2:c.2295G>A	XP_006714789.1:p.Lys765=
XM_011543699.1:c.2298G>A	XP_011542001.1:p.Lys766=
XM_011543700.1:c.2007G>A	XP_011542002.1:p.Lys669=
XM_011543701.1:c.1995G>A	XP_011542003.1:p.Lys665=
XM_011543702.1:c.1902G>A	XP_011542004.1:p.Lys634=
XM_011543703.1:c.1920G>A	XP_011542005.1:p.Lys640=
XM_011543704.1:c.1521G>A	XP_011542006.1:p.Lys507=
NM_001349748.1:c.2232G>A	NP_001336677.1:p.Lys744=
NM_001349749.1:c.2298G>A	NP_001336678.1:p.Lys766=
NM_001349750.1:c.1995G>A	NP_001336679.1:p.Lys665=
NM_001349751.1:c.2232G>A	NP_001336680.1:p.Lys744=
NM_001349752.1:c.1929G>A	NP_001336681.1:p.Lys643=
NM_001349753.1:c.1863G>A	NP_001336682.1:p.Lys621=
XM_005248623.4:c.1932G>A	XP_005248680.1:p.Lys644=
XM_006714726.3:c.2295G>A	XP_006714789.1:p.Lys765=
XM_011543699.3:c.2298G>A	XP_011542001.1:p.Lys766=
XM_011543700.3:c.2007G>A	XP_011542002.1:p.Lys669=
XM_011543704.2:c.1521G>A	XP_011542006.1:p.Lys507=
XM_017010005.2:c.1941G>A	XP_016865494.1:p.Lys647=
XM_017010007.2:c.1932G>A	XP_016865496.1:p.Lys644=
XM_017010008.2:c.1641G>A	XP_016865497.1:p.Lys547=
XM_024446253.1:c.1863G>A	XP_024302021.1:p.Lys621=
XM_024446254.1:c.1572G>A	XP_024302022.1:p.Lys524=
NM_001029851.4:c.1944G>A	NP_001025022.1:p.Lys648=
NM_001029852.4:c.2070G>A	NP_001025023.1:p.Lys690=
NM_001029853.4:c.2175G>A	NP_001025024.1:p.Lys725=
NM_001029854.4:c.2094G>A	NP_001025025.1:p.Lys698=
NM_001349748.3:c.2232G>A	NP_001336677.1:p.Lys744=
NM_001349749.3:c.2298G>A	NP_001336678.1:p.Lys766=
NM_001349750.3:c.1995G>A	NP_001336679.1:p.Lys665=
NM_001349751.3:c.2232G>A	NP_001336680.1:p.Lys744=
NM_001349752.3:c.1929G>A	NP_001336681.1:p.Lys643=
NM_001349753.2:c.1863G>A	NP_001336682.1:p.Lys621=
NM_001376062.1:c.1932G>A	NP_001362991.1:p.Lys644=
NM_001376063.1:c.2226G>A	NP_001362992.1:p.Lys742=
NM_001376064.1:c.2085G>A	NP_001362993.1:p.Lys695=
NM_001376065.1:c.1941G>A	NP_001362994.1:p.Lys647=
NM_001376066.1:c.1872G>A	NP_001362995.1:p.Lys624=
NM_001376067.1:c.1863G>A	NP_001362996.1:p.Lys621=
NM_001376068.1:c.1863G>A	NP_001362997.1:p.Lys621=
NM_001376069.1:c.1851G>A	NP_001362998.1:p.Lys617=
NM_001376070.1:c.1791G>A	NP_001362999.1:p.Lys597=
NM_001376071.1:c.1788G>A	NP_001363000.1:p.Lys596=
NM_001376072.1:c.1932G>A	NP_001363001.1:p.Lys644=
NM_001376073.1:c.1641G>A	NP_001363002.1:p.Lys547=
NM_001376074.1:c.1581G>A	NP_001363003.1:p.Lys527=
NM_001376075.1:c.1572G>A	NP_001363004.1:p.Lys524=
NM_003719.5:c.2235G>A MANE Select	NP_003710.1:p.Lys745=