Canonical Allele Identifier: CA3811906
Community Standard Title: NM_006245.4(PPP2R5D):c.727-5C>T
Gene: PPP2R5D HGNC NCBI
MEA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.43007930C>T , CM000668.2:g.43007930C>T GRCh38
NC_000006.11:g.42975668C>T , CM000668.1:g.42975668C>T GRCh37
NC_000006.10:g.43083646C>T NCBI36
NG_050636.1:g.28432C>T

Transcript Alleles

HGVS Amino-acid Change
NM_006245.4:c.727-5C>T (PPP2R5D) MANE Select NP_006236.1:n.727-5C>T
ENST00000485511.6:c.727-5C>T (PPP2R5D) MANE Select ENSP00000417963.1:n.727-5C>T
NM_001270476.1:c.274-5C>T (PPP2R5D) NP_001257405.1:n.274-5C>T
NM_001270476.2:c.274-5C>T (PPP2R5D) NP_001257405.1:n.274-5C>T
NM_006245.3:c.727-5C>T (PPP2R5D) NP_006236.1:n.727-5C>T
NM_180976.2:c.631-5C>T (PPP2R5D) NP_851307.1:n.631-5C>T
NM_180976.3:c.631-5C>T (PPP2R5D) NP_851307.1:n.631-5C>T
NM_180977.2:c.409-5C>T (PPP2R5D) NP_851308.1:n.409-5C>T
NM_180977.3:c.409-5C>T (PPP2R5D) NP_851308.1:n.409-5C>T
ENST00000230402.10:c.*408-5C>T (PPP2R5D) ENSP00000230402.6:n.*408-5C>T
ENST00000394110.7:c.631-5C>T (PPP2R5D) ENSP00000377669.3:n.631-5C>T
ENST00000461010.5:c.409-5C>T (PPP2R5D) ENSP00000420674.1:n.409-5C>T
ENST00000467447.1:n.304-5C>T (PPP2R5D)
ENST00000470467.5:c.485-5C>T (PPP2R5D)
ENST00000472118.5:c.703-5C>T (PPP2R5D) ENSP00000420550.1:n.703-5C>T
ENST00000485511.5:c.727-5C>T (PPP2R5D) ENSP00000417963.1:n.727-5C>T
ENST00000676174.1:n.386-5C>T (PPP2R5D)
XM_005249123.1:c.367+4996G>A (MEA1) XP_005249180.1:n.367+4996G>A
XM_017010868.1:c.367+4996G>A (MEA1) XP_016866357.1:n.367+4996G>A