Canonical Allele Identifier: CA338114421

Gene: PLEKHG5

Linked Data

• MyVariant Identifiers: chr1:g.6528033T>G (hg19) ; chr1:g.6467973T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6467973T>G , CM000663.2:g.6467973T>G	GRCh38
NC_000001.10:g.6528033T>G , CM000663.1:g.6528033T>G	GRCh37
NC_000001.9:g.6450620T>G	NCBI36
NG_007978.1:g.57037A>C , LRG_262:g.57037A>C
NG_029910.1:g.3223A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340850.10:c.2863A>C	ENSP00000344570.5:p.Lys955Gln
ENST00000377728.8:c.2863A>C MANE Select	ENSP00000366957.3:p.Lys955Gln
ENST00000377740.5:c.2863A>C	ENSP00000366969.4:p.Lys955Gln
ENST00000377748.6:c.3037A>C	ENSP00000366977.2:p.Lys1013Gln
ENST00000400913.6:c.2863A>C	ENSP00000383704.1:p.Lys955Gln
ENST00000400915.8:c.2974A>C	ENSP00000383706.4:p.Lys992Gln
ENST00000489097.6:n.3339A>C
ENST00000535355.6:c.3070A>C	ENSP00000441445.1:p.Lys1024Gln
ENST00000537245.6:c.2974A>C	ENSP00000439625.2:p.Lys992Gln
ENST00000673471.2:c.3160A>C	ENSP00000500749.1:p.Lys1054Gln
ENST00000674790.1:c.*3075A>C	ENSP00000502815.1:n.*3075A>C
ENST00000675123.1:c.2250-80A>C	ENSP00000502132.1:n.2250-80A>C
ENST00000675548.1:c.*2691A>C	ENSP00000502684.1:n.*2691A>C
ENST00000675694.1:c.2863A>C	ENSP00000501925.1:p.Lys955Gln
ENST00000675976.1:c.736A>C	ENSP00000501611.1:p.Lys246Gln
ENST00000340850.9:c.2863A>C	ENSP00000344570.5:p.Lys955Gln
ENST00000377725.5:c.2738-75A>C	ENSP00000366954.1:n.2738-75A>C
ENST00000377728.7:c.2863A>C	ENSP00000366957.3:p.Lys955Gln
ENST00000377732.5:c.2974A>C	ENSP00000366961.1:p.Lys992Gln
ENST00000377740.4:c.2481-80A>C	ENSP00000366969.3:n.2481-80A>C
ENST00000377748.5:c.3094A>C	ENSP00000366977.1:p.Lys1032Gln
ENST00000400913.5:c.2863A>C	ENSP00000383704.1:p.Lys955Gln
ENST00000400915.7:c.3031A>C	ENSP00000383706.3:p.Lys1011Gln
ENST00000487949.4:n.2065A>C
ENST00000489097.5:n.3339A>C
ENST00000535355.5:c.3070A>C	ENSP00000441445.1:p.Lys1024Gln
ENST00000537245.5:c.3100A>C	ENSP00000439625.1:p.Lys1034Gln
NM_001042663.1:c.3031A>C	NP_001036128.1:p.Lys1011Gln
NM_001042664.1:c.2863A>C	NP_001036129.1:p.Lys955Gln
NM_001042665.1:c.2863A>C	NP_001036130.1:p.Lys955Gln
NM_001265592.1:c.3100A>C	NP_001252521.1:p.Lys1034Gln
NM_001265593.1:c.3070A>C	NP_001252522.1:p.Lys1024Gln
NM_001265594.1:c.2738-75A>C	NP_001252523.1:n.2738-75A>C
NM_020631.4:c.2863A>C	NP_065682.2:p.Lys955Gln
NM_198681.3:c.3094A>C	NP_941374.2:p.Lys1032Gln
NM_001042663.2:c.3031A>C	NP_001036128.1:p.Lys1011Gln
NM_001265594.2:c.2738-75A>C	NP_001252523.1:n.2738-75A>C
NM_020631.5:c.2863A>C	NP_065682.2:p.Lys955Gln
NM_001042663.3:c.2974A>C	NP_001036128.2:p.Lys992Gln
NM_001265592.2:c.2974A>C	NP_001252521.2:p.Lys992Gln
NM_020631.6:c.2863A>C MANE Select	NP_065682.2:p.Lys955Gln
NM_198681.4:c.2863A>C	NP_941374.3:p.Lys955Gln