Canonical Allele Identifier: CA338139534
Gene: PLEKHG5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.6474559T>A , CM000663.2:g.6474559T>A GRCh38
NC_000001.10:g.6534619T>A , CM000663.1:g.6534619T>A GRCh37
NC_000001.9:g.6457206T>A NCBI36
NG_007978.1:g.50451A>T , LRG_262:g.50451A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000340850.10:c.331A>T ENSP00000344570.5:p.Lys111Ter
ENST00000377728.8:c.331A>T MANE Select ENSP00000366957.3:p.Lys111Ter
ENST00000377740.5:c.331A>T ENSP00000366969.4:p.Lys111Ter
ENST00000377748.6:c.505A>T ENSP00000366977.2:p.Lys169Ter
ENST00000400913.6:c.331A>T ENSP00000383704.1:p.Lys111Ter
ENST00000400915.8:c.442A>T ENSP00000383706.4:p.Lys148Ter
ENST00000489097.6:n.807A>T
ENST00000535355.6:c.538A>T ENSP00000441445.1:p.Lys180Ter
ENST00000537245.6:c.442A>T ENSP00000439625.2:p.Lys148Ter
ENST00000673471.2:c.628A>T ENSP00000500749.1:p.Lys210Ter
ENST00000674790.1:c.*543A>T ENSP00000502815.1:n.*543A>T
ENST00000675123.1:c.331A>T ENSP00000502132.1:p.Lys111Ter
ENST00000675548.1:c.*159A>T ENSP00000502684.1:n.*159A>T
ENST00000675694.1:c.331A>T ENSP00000501925.1:p.Lys111Ter
ENST00000676255.1:c.293A>T ENSP00000502459.1:n.293A>T
ENST00000340850.9:c.331A>T ENSP00000344570.5:p.Lys111Ter
ENST00000377725.5:c.331A>T ENSP00000366954.1:p.Lys111Ter
ENST00000377728.7:c.331A>T ENSP00000366957.3:p.Lys111Ter
ENST00000377732.5:c.442A>T ENSP00000366961.1:p.Lys148Ter
ENST00000377740.4:c.562A>T ENSP00000366969.3:p.Lys188Ter
ENST00000377748.5:c.562A>T ENSP00000366977.1:p.Lys188Ter
ENST00000400913.5:c.331A>T ENSP00000383704.1:p.Lys111Ter
ENST00000400915.7:c.499A>T ENSP00000383706.3:p.Lys167Ter
ENST00000489097.5:n.807A>T
ENST00000535355.5:c.538A>T ENSP00000441445.1:p.Lys180Ter
ENST00000537245.5:c.568A>T ENSP00000439625.1:p.Lys190Ter
NM_001042663.1:c.499A>T NP_001036128.1:p.Lys167Ter
NM_001042664.1:c.331A>T NP_001036129.1:p.Lys111Ter
NM_001042665.1:c.331A>T NP_001036130.1:p.Lys111Ter
NM_001265592.1:c.568A>T NP_001252521.1:p.Lys190Ter
NM_001265593.1:c.538A>T NP_001252522.1:p.Lys180Ter
NM_001265594.1:c.331A>T NP_001252523.1:p.Lys111Ter
NM_020631.4:c.331A>T NP_065682.2:p.Lys111Ter
NM_198681.3:c.562A>T NP_941374.2:p.Lys188Ter
NM_001042663.2:c.499A>T NP_001036128.1:p.Lys167Ter
NM_001265594.2:c.331A>T NP_001252523.1:p.Lys111Ter
NM_020631.5:c.331A>T NP_065682.2:p.Lys111Ter
NM_001042663.3:c.442A>T NP_001036128.2:p.Lys148Ter
NM_001265592.2:c.442A>T NP_001252521.2:p.Lys148Ter
NM_020631.6:c.331A>T MANE Select NP_065682.2:p.Lys111Ter
NM_198681.4:c.331A>T NP_941374.3:p.Lys111Ter