Canonical Allele Identifier: CA13438123
Gene: PLEKHA7 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.16880721C>T , CM000673.2:g.16880721C>T GRCh38
NC_000011.9:g.16902268C>T , CM000673.1:g.16902268C>T GRCh37
NC_000011.8:g.16858844C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000696749.1:c.93-9539G>A ENSP00000512848.1:n.93-9539G>A
ENST00000698836.1:c.222-9539G>A ENSP00000513972.1:n.222-9539G>A
ENST00000531066.6:c.222-9539G>A MANE Select ENSP00000435389.1:n.222-9539G>A
ENST00000355661.7:c.222-9539G>A ENSP00000347883.2:n.222-9539G>A
ENST00000528376.5:c.-98+563G>A ENSP00000435806.1:n.-98+563G>A
ENST00000528637.5:n.336+563G>A
ENST00000529213.1:n.266-9539G>A
ENST00000531066.5:c.222-9539G>A ENSP00000435389.1:n.222-9539G>A
ENST00000532079.1:c.82-90852G>A ENSP00000434812.1:n.82-90852G>A
NM_175058.4:c.222-9539G>A NP_778228.3:n.222-9539G>A
XM_006718149.2:c.222-9539G>A XP_006718212.1:n.222-9539G>A
XM_011519910.1:c.84-9539G>A XP_011518212.1:n.84-9539G>A
XM_011519912.1:c.18-9539G>A XP_011518214.1:n.18-9539G>A
XM_011519913.1:c.168-9539G>A XP_011518215.1:n.168-9539G>A
XM_011519914.1:c.222-9539G>A XP_011518216.1:n.222-9539G>A
XM_011519916.1:c.168-9539G>A XP_011518218.1:n.168-9539G>A
NM_001329630.1:c.222-9539G>A NP_001316559.1:n.222-9539G>A
NM_001329631.1:c.222-9539G>A NP_001316560.1:n.222-9539G>A
XM_017017241.2:c.222-9539G>A XP_016872730.1:n.222-9539G>A
XM_017017242.2:c.222-9539G>A XP_016872731.1:n.222-9539G>A
XM_024448356.1:c.222-9539G>A XP_024304124.1:n.222-9539G>A
XM_024448357.1:c.222-9539G>A XP_024304125.1:n.222-9539G>A
XM_024448358.1:c.222-9539G>A XP_024304126.1:n.222-9539G>A
XM_024448359.1:c.222-9539G>A XP_024304127.1:n.222-9539G>A
XM_024448360.1:c.222-9539G>A XP_024304128.1:n.222-9539G>A
XM_024448361.1:c.84-9539G>A XP_024304129.1:n.84-9539G>A
XM_024448363.1:c.222-9539G>A XP_024304131.1:n.222-9539G>A
XM_024448364.1:c.222-9539G>A XP_024304132.1:n.222-9539G>A
XM_024448366.1:c.-98+538G>A XP_024304134.1:n.-98+538G>A
XM_024448367.1:c.-98+563G>A XP_024304135.1:n.-98+563G>A
XM_024448368.1:c.-97-9539G>A XP_024304136.1:n.-97-9539G>A
XM_024448370.1:c.222-9539G>A XP_024304138.1:n.222-9539G>A
XR_002957126.1:n.244-9539G>A
NM_001329630.2:c.222-9539G>A MANE Select NP_001316559.1:n.222-9539G>A
NM_001329631.2:c.222-9539G>A NP_001316560.1:n.222-9539G>A
NM_175058.5:c.222-9539G>A NP_778228.3:n.222-9539G>A
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