Canonical Allele Identifier: CA3276109
Community Standard Title: NM_001104631.2(PDE4D):c.1252C>T (p.Arg418Trp)
Gene: PDE4D HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.58990839G>A , CM000667.2:g.58990839G>A GRCh38
NC_000005.9:g.58286666G>A , CM000667.1:g.58286666G>A GRCh37
NC_000005.8:g.58322423G>A NCBI36
NG_027957.1:g.1502260C>T
NG_027957.2:g.1538491C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001104631.2:c.1252C>T MANE Select NP_001098101.1:p.Arg418Trp
ENST00000340635.11:c.1252C>T MANE Select ENSP00000345502.6:p.Arg418Trp
NM_001104631.1:c.1252C>T NP_001098101.1:p.Arg418Trp
NM_001165899.1:c.1069C>T NP_001159371.1:p.Arg357Trp
NM_001165899.2:c.1069C>T NP_001159371.1:p.Arg357Trp
NM_001197218.1:c.1060C>T NP_001184147.1:p.Arg354Trp
NM_001197218.2:c.1060C>T NP_001184147.1:p.Arg354Trp
NM_001197219.1:c.886C>T NP_001184148.1:p.Arg296Trp
NM_001197219.2:c.886C>T NP_001184148.1:p.Arg296Trp
NM_001197220.1:c.862C>T NP_001184149.1:p.Arg288Trp
NM_001197220.2:c.862C>T NP_001184149.1:p.Arg288Trp
NM_001197221.1:c.346C>T NP_001184150.1:p.Arg116Trp
NM_001197221.2:c.346C>T NP_001184150.1:p.Arg116Trp
NM_001197222.1:c.580C>T NP_001184151.1:p.Arg194Trp
NM_001197222.2:c.580C>T NP_001184151.1:p.Arg194Trp
NM_001197223.1:c.379C>T NP_001184152.1:p.Arg127Trp
NM_001197223.2:c.379C>T NP_001184152.1:p.Arg127Trp
NM_001349241.1:c.1039C>T NP_001336170.1:p.Arg347Trp
NM_001349241.2:c.1039C>T NP_001336170.1:p.Arg347Trp
NM_001349242.1:c.922C>T NP_001336171.1:p.Arg308Trp
NM_001349242.2:c.922C>T NP_001336171.1:p.Arg308Trp
NM_001349243.1:c.484C>T NP_001336172.1:p.Arg162Trp
NM_001349243.2:c.484C>T NP_001336172.1:p.Arg162Trp
NM_001364599.1:c.1069C>T NP_001351528.1:p.Arg357Trp
NM_001364603.1:c.346C>T NP_001351532.1:p.Arg116Trp
NM_001364604.1:c.484C>T NP_001351533.1:p.Arg162Trp
NM_006203.4:c.844C>T NP_006194.2:p.Arg282Trp
NM_006203.5:c.844C>T NP_006194.2:p.Arg282Trp
ENST00000309641.10:c.1104C>T ENSP00000308485.6:n.1104C>T
ENST00000317118.12:c.379C>T ENSP00000321739.8:p.Arg127Trp
ENST00000340635.10:c.1252C>T ENSP00000345502.6:p.Arg418Trp
ENST00000358923.10:c.346C>T ENSP00000351800.6:p.Arg116Trp
ENST00000360047.9:c.844C>T ENSP00000353152.5:p.Arg282Trp
ENST00000405755.6:c.886C>T ENSP00000384806.2:p.Arg296Trp
ENST00000502484.6:c.1069C>T ENSP00000423094.2:p.Arg357Trp
ENST00000503258.5:c.862C>T ENSP00000425605.1:p.Arg288Trp
ENST00000505453.1:c.346C>T ENSP00000421013.1:p.Arg116Trp
ENST00000507116.5:c.1060C>T ENSP00000424852.1:p.Arg354Trp
ENST00000507116.6:c.1060C>T ENSP00000424852.1:p.Arg354Trp
ENST00000515011.5:n.988C>T
ENST00000546160.5:c.859C>T ENSP00000442734.2:p.Arg287Trp
ENST00000636120.1:c.922C>T ENSP00000490821.1:p.Arg308Trp
XM_005248537.2:c.922C>T XP_005248594.1:p.Arg308Trp
XM_005248538.3:c.844C>T XP_005248595.1:p.Arg282Trp
XM_011543469.1:c.1216C>T XP_011541771.1:p.Arg406Trp
XM_011543470.1:c.1216C>T XP_011541772.1:p.Arg406Trp
XM_011543470.2:c.1216C>T XP_011541772.1:p.Arg406Trp
XM_011543471.1:c.1069C>T XP_011541773.1:p.Arg357Trp
XM_011543471.2:c.1069C>T XP_011541773.1:p.Arg357Trp
XM_011543472.1:c.1069C>T XP_011541774.1:p.Arg357Trp
XM_011543473.1:c.1069C>T XP_011541775.1:p.Arg357Trp
XM_011543474.1:c.1039C>T XP_011541776.1:p.Arg347Trp
XM_011543475.1:c.886C>T XP_011541777.1:p.Arg296Trp
XM_011543476.1:c.832C>T XP_011541778.1:p.Arg278Trp
XM_011543477.1:c.811C>T XP_011541779.1:p.Arg271Trp
XM_011543478.1:c.748C>T XP_011541780.1:p.Arg250Trp
XM_011543479.1:c.748C>T XP_011541781.1:p.Arg250Trp
XM_017009565.1:c.1216C>T XP_016865054.1:p.Arg406Trp
XM_017009566.1:c.1069C>T XP_016865055.1:p.Arg357Trp
XM_017009567.1:c.1054C>T XP_016865056.1:p.Arg352Trp
XM_024446110.1:c.1216C>T XP_024301878.1:p.Arg406Trp
XM_024446112.1:c.1069C>T XP_024301880.1:p.Arg357Trp