Canonical Allele Identifier: CA359930752

Gene: PDE4D

Linked Data

• ClinVar Variation Id: 2446279
• ClinVar RCV Id: RCV003156633
• MyVariant Identifiers: chr5:g.58511632C>G (hg19) ; chr5:g.59215806C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.59215806C>G , CM000667.2:g.59215806C>G	GRCh38
NC_000005.9:g.58511632C>G , CM000667.1:g.58511632C>G	GRCh37
NC_000005.8:g.58547389C>G	NCBI36
NG_027957.1:g.1277294G>C
NG_027957.2:g.1313524G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000507116.6:c.426G>C	ENSP00000424852.1:p.Met142Ile
ENST00000340635.11:c.618G>C MANE Select	ENSP00000345502.6:p.Met206Ile
ENST00000636120.1:c.288G>C	ENSP00000490821.1:p.Met96Ile
ENST00000638939.1:c.183G>C	ENSP00000492052.1:p.Met61Ile
ENST00000309641.10:c.426G>C	ENSP00000308485.6:p.Met142Ile
ENST00000340635.10:c.618G>C	ENSP00000345502.6:p.Met206Ile
ENST00000360047.9:c.210G>C	ENSP00000353152.5:p.Met70Ile
ENST00000405053.7:n.281G>C
ENST00000405755.6:c.252G>C	ENSP00000384806.2:p.Met84Ile
ENST00000502484.6:c.435G>C	ENSP00000423094.2:p.Met145Ile
ENST00000502575.1:c.426G>C	ENSP00000425917.1:p.Met142Ile
ENST00000503258.5:c.228G>C	ENSP00000425605.1:p.Met76Ile
ENST00000505453.1:c.-98-176835G>C	ENSP00000421013.1:n.-98-176835G>C
ENST00000507116.5:c.426G>C	ENSP00000424852.1:p.Met142Ile
ENST00000514231.1:n.381G>C
ENST00000515324.1:n.130G>C
ENST00000546160.5:c.225G>C	ENSP00000442734.2:p.Met75Ile
ENST00000621323.4:n.163G>C
NM_001104631.1:c.618G>C	NP_001098101.1:p.Met206Ile
NM_001165899.1:c.435G>C	NP_001159371.1:p.Met145Ile
NM_001197218.1:c.426G>C	NP_001184147.1:p.Met142Ile
NM_001197219.1:c.252G>C	NP_001184148.1:p.Met84Ile
NM_001197220.1:c.228G>C	NP_001184149.1:p.Met76Ile
NM_006203.4:c.210G>C	NP_006194.2:p.Met70Ile
XM_005248537.2:c.288G>C	XP_005248594.1:p.Met96Ile
XM_005248538.3:c.210G>C	XP_005248595.1:p.Met70Ile
XM_011543469.1:c.582G>C	XP_011541771.1:p.Met194Ile
XM_011543470.1:c.582G>C	XP_011541772.1:p.Met194Ile
XM_011543471.1:c.435G>C	XP_011541773.1:p.Met145Ile
XM_011543472.1:c.435G>C	XP_011541774.1:p.Met145Ile
XM_011543473.1:c.435G>C	XP_011541775.1:p.Met145Ile
XM_011543474.1:c.405G>C	XP_011541776.1:p.Met135Ile
XM_011543475.1:c.252G>C	XP_011541777.1:p.Met84Ile
XM_011543476.1:c.198G>C	XP_011541778.1:p.Met66Ile
XM_011543477.1:c.177G>C	XP_011541779.1:p.Met59Ile
XM_011543478.1:c.114G>C	XP_011541780.1:p.Met38Ile
XM_011543479.1:c.114G>C	XP_011541781.1:p.Met38Ile
NM_001349241.1:c.405G>C	NP_001336170.1:p.Met135Ile
NM_001349242.1:c.288G>C	NP_001336171.1:p.Met96Ile
NM_001349243.1:c.-77G>C	NP_001336172.1:n.-77G>C
NM_001364599.1:c.435G>C	NP_001351528.1:p.Met145Ile
NM_001364600.1:c.435G>C	NP_001351529.1:p.Met145Ile
NM_001364601.1:c.426G>C	NP_001351530.1:p.Met142Ile
NM_001364602.1:c.426G>C	NP_001351531.1:p.Met142Ile
NM_001364603.1:c.-333G>C	NP_001351532.1:n.-333G>C
NM_001364604.1:c.-77G>C	NP_001351533.1:n.-77G>C
XM_011543470.2:c.582G>C	XP_011541772.1:p.Met194Ile
XM_011543471.2:c.435G>C	XP_011541773.1:p.Met145Ile
XM_017009565.1:c.582G>C	XP_016865054.1:p.Met194Ile
XM_017009566.1:c.435G>C	XP_016865055.1:p.Met145Ile
XM_017009567.1:c.420G>C	XP_016865056.1:p.Met140Ile
XM_024446110.1:c.582G>C	XP_024301878.1:p.Met194Ile
XM_024446112.1:c.435G>C	XP_024301880.1:p.Met145Ile
NM_001104631.2:c.618G>C MANE Select	NP_001098101.1:p.Met206Ile
NM_001165899.2:c.435G>C	NP_001159371.1:p.Met145Ile
NM_001197218.2:c.426G>C	NP_001184147.1:p.Met142Ile
NM_001197219.2:c.252G>C	NP_001184148.1:p.Met84Ile
NM_001197220.2:c.228G>C	NP_001184149.1:p.Met76Ile
NM_001349241.2:c.405G>C	NP_001336170.1:p.Met135Ile
NM_001349243.2:c.-77G>C	NP_001336172.1:n.-77G>C
NM_001364600.2:c.435G>C	NP_001351529.1:p.Met145Ile
NM_001364602.2:c.426G>C	NP_001351531.1:p.Met142Ile
NM_001349242.2:c.288G>C	NP_001336171.1:p.Met96Ile
NM_006203.5:c.210G>C	NP_006194.2:p.Met70Ile