Canonical Allele Identifier: CA364185312
Gene: PPP2R5D HGNC NCBI
MEA1 HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.43007275C>T , CM000668.2:g.43007275C>T GRCh38
NC_000006.11:g.42975013C>T , CM000668.1:g.42975013C>T GRCh37
NC_000006.10:g.43082991C>T NCBI36
NG_050636.1:g.27777C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000485511.6:c.602C>T (PPP2R5D) MANE Select ENSP00000417963.1:p.Pro201Leu
ENST00000676174.1:n.261C>T (PPP2R5D)
ENST00000230402.10:c.*283C>T (PPP2R5D) ENSP00000230402.6:n.*283C>T
ENST00000394110.7:c.506C>T (PPP2R5D) ENSP00000377669.3:p.Pro169Leu
ENST00000461010.5:c.284C>T (PPP2R5D) ENSP00000420674.1:p.Pro95Leu
ENST00000467447.1:n.179C>T (PPP2R5D)
ENST00000470467.5:c.360C>T (PPP2R5D)
ENST00000472118.5:c.578C>T (PPP2R5D) ENSP00000420550.1:p.Pro193Leu
ENST00000485511.5:c.602C>T (PPP2R5D) ENSP00000417963.1:p.Pro201Leu
NM_001270476.1:c.149C>T (PPP2R5D) NP_001257405.1:p.Pro50Leu
NM_006245.3:c.602C>T (PPP2R5D) NP_006236.1:p.Pro201Leu
NM_180976.2:c.506C>T (PPP2R5D) NP_851307.1:p.Pro169Leu
NM_180977.2:c.284C>T (PPP2R5D) NP_851308.1:p.Pro95Leu
XM_005249123.1:c.367+5651G>A (MEA1) XP_005249180.1:n.367+5651G>A
XM_017010868.1:c.367+5651G>A (MEA1) XP_016866357.1:n.367+5651G>A
NM_006245.4:c.602C>T (PPP2R5D) MANE Select NP_006236.1:p.Pro201Leu
NM_001270476.2:c.149C>T (PPP2R5D) NP_001257405.1:p.Pro50Leu
NM_180976.3:c.506C>T (PPP2R5D) NP_851307.1:p.Pro169Leu
NM_180977.3:c.284C>T (PPP2R5D) NP_851308.1:p.Pro95Leu