Canonical Allele Identifier: CA360176386

Gene: PDE8B

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.77325674A>C , CM000667.2:g.77325674A>C	GRCh38
NC_000005.9:g.76621499A>C , CM000667.1:g.76621499A>C	GRCh37
NC_000005.8:g.76657255A>C	NCBI36
NG_023364.1:g.119794A>C
NG_023364.2:g.150423A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_003719.5:c.535A>C MANE Select	NP_003710.1:p.Ile179Leu
ENST00000264917.10:c.535A>C MANE Select	ENSP00000264917.6:p.Ile179Leu
NM_001029851.2:c.535A>C	NP_001025022.1:p.Ile179Leu
NM_001029851.4:c.535A>C	NP_001025022.1:p.Ile179Leu
NM_001029852.2:c.535A>C	NP_001025023.1:p.Ile179Leu
NM_001029852.4:c.535A>C	NP_001025023.1:p.Ile179Leu
NM_001029853.2:c.475A>C	NP_001025024.1:p.Ile159Leu
NM_001029853.4:c.475A>C	NP_001025024.1:p.Ile159Leu
NM_001029854.2:c.535A>C	NP_001025025.1:p.Ile179Leu
NM_001029854.4:c.535A>C	NP_001025025.1:p.Ile179Leu
NM_001349748.1:c.532A>C	NP_001336677.1:p.Ile178Leu
NM_001349748.3:c.532A>C	NP_001336677.1:p.Ile178Leu
NM_001349749.1:c.598A>C	NP_001336678.1:p.Ile200Leu
NM_001349749.3:c.598A>C	NP_001336678.1:p.Ile200Leu
NM_001349750.1:c.295A>C	NP_001336679.1:p.Ile99Leu
NM_001349750.3:c.295A>C	NP_001336679.1:p.Ile99Leu
NM_001349751.1:c.532A>C	NP_001336680.1:p.Ile178Leu
NM_001349751.3:c.532A>C	NP_001336680.1:p.Ile178Leu
NM_001349752.1:c.229A>C	NP_001336681.1:p.Ile77Leu
NM_001349752.3:c.229A>C	NP_001336681.1:p.Ile77Leu
NM_001349753.1:c.163A>C	NP_001336682.1:p.Ile55Leu
NM_001349753.2:c.163A>C	NP_001336682.1:p.Ile55Leu
NM_001376062.1:c.232A>C	NP_001362991.1:p.Ile78Leu
NM_001376063.1:c.535A>C	NP_001362992.1:p.Ile179Leu
NM_001376064.1:c.535A>C	NP_001362993.1:p.Ile179Leu
NM_001376065.1:c.532A>C	NP_001362994.1:p.Ile178Leu
NM_001376066.1:c.172A>C	NP_001362995.1:p.Ile58Leu
NM_001376067.1:c.163A>C	NP_001362996.1:p.Ile55Leu
NM_001376068.1:c.163A>C	NP_001362997.1:p.Ile55Leu
NM_001376069.1:c.292A>C	NP_001362998.1:p.Ile98Leu
NM_001376070.1:c.232A>C	NP_001362999.1:p.Ile78Leu
NM_001376071.1:c.229A>C	NP_001363000.1:p.Ile77Leu
NM_001376072.1:c.232A>C	NP_001363001.1:p.Ile78Leu
NM_001376073.1:c.232A>C	NP_001363002.1:p.Ile78Leu
NM_001376074.1:c.172A>C	NP_001363003.1:p.Ile58Leu
NM_001376075.1:c.163A>C	NP_001363004.1:p.Ile55Leu
NM_003719.3:c.535A>C	NP_003710.1:p.Ile179Leu
ENST00000264917.9:c.535A>C	ENSP00000264917.5:p.Ile179Leu
ENST00000333194.8:c.535A>C	ENSP00000331336.4:p.Ile179Leu
ENST00000340978.7:c.535A>C	ENSP00000345446.3:p.Ile179Leu
ENST00000342343.8:c.475A>C	ENSP00000345646.4:p.Ile159Leu
ENST00000346042.7:c.535A>C	ENSP00000330428.3:p.Ile179Leu
ENST00000502945.1:c.163A>C	ENSP00000426200.1:p.Ile55Leu
ENST00000505926.5:c.163A>C	ENSP00000425720.1:p.Ile55Leu
ENST00000646262.1:c.163A>C	ENSP00000493971.1:p.Ile55Leu
XM_005248621.3:c.532A>C	XP_005248678.1:p.Ile178Leu
XM_005248623.3:c.232A>C	XP_005248680.1:p.Ile78Leu
XM_005248623.4:c.232A>C	XP_005248680.1:p.Ile78Leu
XM_005248624.3:c.229A>C	XP_005248681.1:p.Ile77Leu
XM_006714725.2:c.598A>C	XP_006714788.1:p.Ile200Leu
XM_006714726.2:c.595A>C	XP_006714789.1:p.Ile199Leu
XM_006714726.3:c.595A>C	XP_006714789.1:p.Ile199Leu
XM_011543699.1:c.598A>C	XP_011542001.1:p.Ile200Leu
XM_011543699.3:c.598A>C	XP_011542001.1:p.Ile200Leu
XM_011543700.1:c.598A>C	XP_011542002.1:p.Ile200Leu
XM_011543700.3:c.598A>C	XP_011542002.1:p.Ile200Leu
XM_011543701.1:c.295A>C	XP_011542003.1:p.Ile99Leu
XM_011543702.1:c.202A>C	XP_011542004.1:p.Ile68Leu
XM_011543703.1:c.220A>C	XP_011542005.1:p.Ile74Leu
XM_017010005.2:c.532A>C	XP_016865494.1:p.Ile178Leu
XM_017010007.2:c.232A>C	XP_016865496.1:p.Ile78Leu
XM_017010008.2:c.232A>C	XP_016865497.1:p.Ile78Leu
XM_024446253.1:c.163A>C	XP_024302021.1:p.Ile55Leu
XM_024446254.1:c.163A>C	XP_024302022.1:p.Ile55Leu