Canonical Allele Identifier: CA360176975

Gene: PDE8B

Linked Data

• gnomAD v4: 5-77331425-C-T
• MyVariant Identifiers: chr5:g.76627250C>T (hg19) ; chr5:g.77331425C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.77331425C>T , CM000667.2:g.77331425C>T	GRCh38
NC_000005.9:g.76627250C>T , CM000667.1:g.76627250C>T	GRCh37
NC_000005.8:g.76663006C>T	NCBI36
NG_023364.1:g.125545C>T
NG_023364.2:g.156174C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264917.10:c.674C>T MANE Select	ENSP00000264917.6:p.Ser225Leu
ENST00000646262.1:c.302C>T	ENSP00000493971.1:p.Ser101Leu
ENST00000264917.9:c.674C>T	ENSP00000264917.5:p.Ser225Leu
ENST00000333194.8:c.674C>T	ENSP00000331336.4:p.Ser225Leu
ENST00000340978.7:c.674C>T	ENSP00000345446.3:p.Ser225Leu
ENST00000342343.8:c.614C>T	ENSP00000345646.4:p.Ser205Leu
ENST00000346042.7:c.674C>T	ENSP00000330428.3:p.Ser225Leu
ENST00000502945.1:c.302C>T	ENSP00000426200.1:p.Ser101Leu
ENST00000503963.1:c.-41C>T	ENSP00000422861.1:n.-41C>T
ENST00000505926.5:c.302C>T	ENSP00000425720.1:p.Ser101Leu
NM_001029851.2:c.674C>T	NP_001025022.1:p.Ser225Leu
NM_001029852.2:c.674C>T	NP_001025023.1:p.Ser225Leu
NM_001029853.2:c.614C>T	NP_001025024.1:p.Ser205Leu
NM_001029854.2:c.674C>T	NP_001025025.1:p.Ser225Leu
NM_003719.3:c.674C>T	NP_003710.1:p.Ser225Leu
XM_005248621.3:c.671C>T	XP_005248678.1:p.Ser224Leu
XM_005248623.3:c.371C>T	XP_005248680.1:p.Ser124Leu
XM_005248624.3:c.368C>T	XP_005248681.1:p.Ser123Leu
XM_006714725.2:c.737C>T	XP_006714788.1:p.Ser246Leu
XM_006714726.2:c.734C>T	XP_006714789.1:p.Ser245Leu
XM_011543699.1:c.737C>T	XP_011542001.1:p.Ser246Leu
XM_011543700.1:c.737C>T	XP_011542002.1:p.Ser246Leu
XM_011543701.1:c.434C>T	XP_011542003.1:p.Ser145Leu
XM_011543702.1:c.341C>T	XP_011542004.1:p.Ser114Leu
XM_011543703.1:c.359C>T	XP_011542005.1:p.Ser120Leu
XM_011543704.1:c.-41C>T	XP_011542006.1:n.-41C>T
NM_001349748.1:c.671C>T	NP_001336677.1:p.Ser224Leu
NM_001349749.1:c.737C>T	NP_001336678.1:p.Ser246Leu
NM_001349750.1:c.434C>T	NP_001336679.1:p.Ser145Leu
NM_001349751.1:c.671C>T	NP_001336680.1:p.Ser224Leu
NM_001349752.1:c.368C>T	NP_001336681.1:p.Ser123Leu
NM_001349753.1:c.302C>T	NP_001336682.1:p.Ser101Leu
XM_005248623.4:c.371C>T	XP_005248680.1:p.Ser124Leu
XM_006714726.3:c.734C>T	XP_006714789.1:p.Ser245Leu
XM_011543699.3:c.737C>T	XP_011542001.1:p.Ser246Leu
XM_011543700.3:c.737C>T	XP_011542002.1:p.Ser246Leu
XM_011543704.2:c.-41C>T	XP_011542006.1:n.-41C>T
XM_017010005.2:c.671C>T	XP_016865494.1:p.Ser224Leu
XM_017010007.2:c.371C>T	XP_016865496.1:p.Ser124Leu
XM_017010008.2:c.371C>T	XP_016865497.1:p.Ser124Leu
XM_024446253.1:c.302C>T	XP_024302021.1:p.Ser101Leu
XM_024446254.1:c.302C>T	XP_024302022.1:p.Ser101Leu
NM_001029851.4:c.674C>T	NP_001025022.1:p.Ser225Leu
NM_001029852.4:c.674C>T	NP_001025023.1:p.Ser225Leu
NM_001029853.4:c.614C>T	NP_001025024.1:p.Ser205Leu
NM_001029854.4:c.674C>T	NP_001025025.1:p.Ser225Leu
NM_001349748.3:c.671C>T	NP_001336677.1:p.Ser224Leu
NM_001349749.3:c.737C>T	NP_001336678.1:p.Ser246Leu
NM_001349750.3:c.434C>T	NP_001336679.1:p.Ser145Leu
NM_001349751.3:c.671C>T	NP_001336680.1:p.Ser224Leu
NM_001349752.3:c.368C>T	NP_001336681.1:p.Ser123Leu
NM_001349753.2:c.302C>T	NP_001336682.1:p.Ser101Leu
NM_001376062.1:c.371C>T	NP_001362991.1:p.Ser124Leu
NM_001376063.1:c.674C>T	NP_001362992.1:p.Ser225Leu
NM_001376064.1:c.674C>T	NP_001362993.1:p.Ser225Leu
NM_001376065.1:c.671C>T	NP_001362994.1:p.Ser224Leu
NM_001376066.1:c.311C>T	NP_001362995.1:p.Ser104Leu
NM_001376067.1:c.302C>T	NP_001362996.1:p.Ser101Leu
NM_001376068.1:c.302C>T	NP_001362997.1:p.Ser101Leu
NM_001376069.1:c.431C>T	NP_001362998.1:p.Ser144Leu
NM_001376070.1:c.371C>T	NP_001362999.1:p.Ser124Leu
NM_001376071.1:c.368C>T	NP_001363000.1:p.Ser123Leu
NM_001376072.1:c.371C>T	NP_001363001.1:p.Ser124Leu
NM_001376073.1:c.371C>T	NP_001363002.1:p.Ser124Leu
NM_001376074.1:c.311C>T	NP_001363003.1:p.Ser104Leu
NM_001376075.1:c.302C>T	NP_001363004.1:p.Ser101Leu
NM_003719.5:c.674C>T MANE Select	NP_003710.1:p.Ser225Leu