Canonical Allele Identifier: CA114710
Gene: PLEKHG5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1019
ClinVar RCV Id: RCV000001074 RCV000790140
dbSNP Id: rs63750315
MyVariant Identifiers: chr1:g.6529504A>G (hg19) chr1:g.6469444A>G (hg38)
PubMed: PMID:16728649 PMID:17564964
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.6469444A>G , CM000663.2:g.6469444A>G GRCh38
NC_000001.10:g.6529504A>G , CM000663.1:g.6529504A>G GRCh37
NC_000001.9:g.6452091A>G NCBI36
NG_007978.1:g.55566T>C , LRG_262:g.55566T>C
NG_029910.1:g.1752T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000340850.10:c.1940T>C ENSP00000344570.5:p.Phe647Ser
ENST00000377728.8:c.1940T>C MANE Select ENSP00000366957.3:p.Phe647Ser
ENST00000377740.5:c.1940T>C ENSP00000366969.4:p.Phe647Ser
ENST00000377748.6:c.2114T>C ENSP00000366977.2:p.Phe705Ser
ENST00000400913.6:c.1940T>C ENSP00000383704.1:p.Phe647Ser
ENST00000400915.8:c.2051T>C ENSP00000383706.4:p.Phe684Ser
ENST00000489097.6:n.2416T>C
ENST00000535355.6:c.2147T>C ENSP00000441445.1:p.Phe716Ser
ENST00000537245.6:c.2051T>C ENSP00000439625.2:p.Phe684Ser
ENST00000673471.2:c.2237T>C ENSP00000500749.1:p.Phe746Ser
ENST00000674790.1:c.*2152T>C ENSP00000502815.1:n.*2152T>C
ENST00000675123.1:c.1940T>C ENSP00000502132.1:p.Phe647Ser
ENST00000675139.1:n.11T>C
ENST00000675548.1:c.*1768T>C ENSP00000502684.1:n.*1768T>C
ENST00000675694.1:c.1940T>C ENSP00000501925.1:p.Phe647Ser
ENST00000676401.1:n.487T>C
ENST00000340850.9:c.1940T>C ENSP00000344570.5:p.Phe647Ser
ENST00000377725.5:c.1940T>C ENSP00000366954.1:p.Phe647Ser
ENST00000377728.7:c.1940T>C ENSP00000366957.3:p.Phe647Ser
ENST00000377732.5:c.2051T>C ENSP00000366961.1:p.Phe684Ser
ENST00000377740.4:c.2171T>C ENSP00000366969.3:p.Phe724Ser
ENST00000377748.5:c.2171T>C ENSP00000366977.1:p.Phe724Ser
ENST00000400913.5:c.1940T>C ENSP00000383704.1:p.Phe647Ser
ENST00000400915.7:c.2108T>C ENSP00000383706.3:p.Phe703Ser
ENST00000487949.4:n.1142T>C
ENST00000489097.5:n.2416T>C
ENST00000535355.5:c.2147T>C ENSP00000441445.1:p.Phe716Ser
ENST00000537245.5:c.2177T>C ENSP00000439625.1:p.Phe726Ser
NM_001042663.1:c.2108T>C NP_001036128.1:p.Phe703Ser
NM_001042664.1:c.1940T>C NP_001036129.1:p.Phe647Ser
NM_001042665.1:c.1940T>C NP_001036130.1:p.Phe647Ser
NM_001265592.1:c.2177T>C NP_001252521.1:p.Phe726Ser
NM_001265593.1:c.2147T>C NP_001252522.1:p.Phe716Ser
NM_001265594.1:c.1940T>C NP_001252523.1:p.Phe647Ser
NM_020631.4:c.1940T>C NP_065682.2:p.Phe647Ser
NM_198681.3:c.2171T>C NP_941374.2:p.Phe724Ser
NM_001042663.2:c.2108T>C NP_001036128.1:p.Phe703Ser
NM_001265594.2:c.1940T>C NP_001252523.1:p.Phe647Ser
NM_020631.5:c.1940T>C NP_065682.2:p.Phe647Ser
NM_001042663.3:c.2051T>C NP_001036128.2:p.Phe684Ser
NM_001265592.2:c.2051T>C NP_001252521.2:p.Phe684Ser
NM_020631.6:c.1940T>C MANE Select NP_065682.2:p.Phe647Ser
NM_198681.4:c.1940T>C NP_941374.3:p.Phe647Ser
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