Canonical Allele Identifier: CA128856

Gene: PDE4D

Linked Data

• ClinVar Variation Id: 30040
• ClinVar RCV Id: RCV000022940
• dbSNP Id: rs387906744
• MyVariant Identifiers: chr5:g.58271545T>G (hg19) ; chr5:g.58975718T>G (hg38)
• PubMed: PMID:11200992 ; PMID:22464252

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.58975718T>G , CM000667.2:g.58975718T>G	GRCh38
NC_000005.9:g.58271545T>G , CM000667.1:g.58271545T>G	GRCh37
NC_000005.8:g.58307302T>G	NCBI36
NG_027957.1:g.1517381A>C
NG_027957.2:g.1553612A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000507116.6:c.1760A>C	ENSP00000424852.1:p.Glu587Ala
ENST00000340635.11:c.1952A>C MANE Select	ENSP00000345502.6:p.Glu651Ala
ENST00000636120.1:c.1622A>C	ENSP00000490821.1:p.Glu541Ala
ENST00000309641.10:c.1804A>C	ENSP00000308485.6:n.1804A>C
ENST00000317118.12:c.1079A>C	ENSP00000321739.8:p.Glu360Ala
ENST00000340635.10:c.1952A>C	ENSP00000345502.6:p.Glu651Ala
ENST00000358923.10:c.1046A>C	ENSP00000351800.6:p.Glu349Ala
ENST00000360047.9:c.1544A>C	ENSP00000353152.5:p.Glu515Ala
ENST00000405755.6:c.1586A>C	ENSP00000384806.2:p.Glu529Ala
ENST00000502484.6:c.1769A>C	ENSP00000423094.2:p.Glu590Ala
ENST00000503258.5:c.1562A>C	ENSP00000425605.1:p.Glu521Ala
ENST00000505453.1:c.1046A>C	ENSP00000421013.1:p.Glu349Ala
ENST00000507116.5:c.1760A>C	ENSP00000424852.1:p.Glu587Ala
ENST00000515011.5:n.1688A>C
ENST00000546160.5:c.1559A>C	ENSP00000442734.2:p.Glu520Ala
NM_001104631.1:c.1952A>C	NP_001098101.1:p.Glu651Ala
NM_001165899.1:c.1769A>C	NP_001159371.1:p.Glu590Ala
NM_001197218.1:c.1760A>C	NP_001184147.1:p.Glu587Ala
NM_001197219.1:c.1586A>C	NP_001184148.1:p.Glu529Ala
NM_001197220.1:c.1562A>C	NP_001184149.1:p.Glu521Ala
NM_001197221.1:c.1046A>C	NP_001184150.1:p.Glu349Ala
NM_001197222.1:c.1280A>C	NP_001184151.1:p.Glu427Ala
NM_001197223.1:c.1079A>C	NP_001184152.1:p.Glu360Ala
NM_006203.4:c.1544A>C	NP_006194.2:p.Glu515Ala
XM_005248537.2:c.1622A>C	XP_005248594.1:p.Glu541Ala
XM_005248538.3:c.1544A>C	XP_005248595.1:p.Glu515Ala
XM_011543469.1:c.1916A>C	XP_011541771.1:p.Glu639Ala
XM_011543470.1:c.1916A>C	XP_011541772.1:p.Glu639Ala
XM_011543471.1:c.1769A>C	XP_011541773.1:p.Glu590Ala
XM_011543472.1:c.1769A>C	XP_011541774.1:p.Glu590Ala
XM_011543473.1:c.1769A>C	XP_011541775.1:p.Glu590Ala
XM_011543474.1:c.1739A>C	XP_011541776.1:p.Glu580Ala
XM_011543475.1:c.1586A>C	XP_011541777.1:p.Glu529Ala
XM_011543476.1:c.1532A>C	XP_011541778.1:p.Glu511Ala
XM_011543477.1:c.1511A>C	XP_011541779.1:p.Glu504Ala
XM_011543478.1:c.1448A>C	XP_011541780.1:p.Glu483Ala
XM_011543479.1:c.1448A>C	XP_011541781.1:p.Glu483Ala
NM_001349241.1:c.1739A>C	NP_001336170.1:p.Glu580Ala
NM_001349242.1:c.1622A>C	NP_001336171.1:p.Glu541Ala
NM_001349243.1:c.1184A>C	NP_001336172.1:p.Glu395Ala
NM_001364599.1:c.1769A>C	NP_001351528.1:p.Glu590Ala
NM_001364603.1:c.1046A>C	NP_001351532.1:p.Glu349Ala
NM_001364604.1:c.1184A>C	NP_001351533.1:p.Glu395Ala
XM_011543470.2:c.1916A>C	XP_011541772.1:p.Glu639Ala
XM_011543471.2:c.1769A>C	XP_011541773.1:p.Glu590Ala
XM_017009565.1:c.1916A>C	XP_016865054.1:p.Glu639Ala
XM_017009566.1:c.1769A>C	XP_016865055.1:p.Glu590Ala
XM_017009567.1:c.1754A>C	XP_016865056.1:p.Glu585Ala
XM_024446110.1:c.1916A>C	XP_024301878.1:p.Glu639Ala
XM_024446112.1:c.1769A>C	XP_024301880.1:p.Glu590Ala
NM_001104631.2:c.1952A>C MANE Select	NP_001098101.1:p.Glu651Ala
NM_001165899.2:c.1769A>C	NP_001159371.1:p.Glu590Ala
NM_001197218.2:c.1760A>C	NP_001184147.1:p.Glu587Ala
NM_001197219.2:c.1586A>C	NP_001184148.1:p.Glu529Ala
NM_001197220.2:c.1562A>C	NP_001184149.1:p.Glu521Ala
NM_001197221.2:c.1046A>C	NP_001184150.1:p.Glu349Ala
NM_001197222.2:c.1280A>C	NP_001184151.1:p.Glu427Ala
NM_001197223.2:c.1079A>C	NP_001184152.1:p.Glu360Ala
NM_001349241.2:c.1739A>C	NP_001336170.1:p.Glu580Ala
NM_001349243.2:c.1184A>C	NP_001336172.1:p.Glu395Ala
NM_001349242.2:c.1622A>C	NP_001336171.1:p.Glu541Ala
NM_006203.5:c.1544A>C	NP_006194.2:p.Glu515Ala