Canonical Allele Identifier: CA338117768

Gene: PLEKHG5

Linked Data

• ClinVar Variation Id: 1367102
• ClinVar RCV Id: RCV001962231
• dbSNP Id: rs1644465940
• MyVariant Identifiers: chr1:g.6528584G>T (hg19) ; chr1:g.6468524G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6468524G>T , CM000663.2:g.6468524G>T	GRCh38
NC_000001.10:g.6528584G>T , CM000663.1:g.6528584G>T	GRCh37
NC_000001.9:g.6451171G>T	NCBI36
NG_007978.1:g.56486C>A , LRG_262:g.56486C>A
NG_029910.1:g.2672C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340850.10:c.2312C>A	ENSP00000344570.5:p.Ser771Tyr
ENST00000377728.8:c.2312C>A MANE Select	ENSP00000366957.3:p.Ser771Tyr
ENST00000377740.5:c.2312C>A	ENSP00000366969.4:p.Ser771Tyr
ENST00000377748.6:c.2486C>A	ENSP00000366977.2:p.Ser829Tyr
ENST00000400913.6:c.2312C>A	ENSP00000383704.1:p.Ser771Tyr
ENST00000400915.8:c.2423C>A	ENSP00000383706.4:p.Ser808Tyr
ENST00000489097.6:n.2788C>A
ENST00000535355.6:c.2519C>A	ENSP00000441445.1:p.Ser840Tyr
ENST00000537245.6:c.2423C>A	ENSP00000439625.2:p.Ser808Tyr
ENST00000673471.2:c.2609C>A	ENSP00000500749.1:p.Ser870Tyr
ENST00000674790.1:c.*2524C>A	ENSP00000502815.1:n.*2524C>A
ENST00000675123.1:c.2249+518C>A	ENSP00000502132.1:n.2249+518C>A
ENST00000675548.1:c.*2140C>A	ENSP00000502684.1:n.*2140C>A
ENST00000675694.1:c.2312C>A	ENSP00000501925.1:p.Ser771Tyr
ENST00000675976.1:c.185C>A	ENSP00000501611.1:p.Ser62Tyr
ENST00000340850.9:c.2312C>A	ENSP00000344570.5:p.Ser771Tyr
ENST00000377725.5:c.2312C>A	ENSP00000366954.1:p.Ser771Tyr
ENST00000377728.7:c.2312C>A	ENSP00000366957.3:p.Ser771Tyr
ENST00000377732.5:c.2423C>A	ENSP00000366961.1:p.Ser808Tyr
ENST00000377740.4:c.2480+518C>A	ENSP00000366969.3:n.2480+518C>A
ENST00000377748.5:c.2543C>A	ENSP00000366977.1:p.Ser848Tyr
ENST00000400913.5:c.2312C>A	ENSP00000383704.1:p.Ser771Tyr
ENST00000400915.7:c.2480C>A	ENSP00000383706.3:p.Ser827Tyr
ENST00000487949.4:n.1514C>A
ENST00000489097.5:n.2788C>A
ENST00000535355.5:c.2519C>A	ENSP00000441445.1:p.Ser840Tyr
ENST00000537245.5:c.2549C>A	ENSP00000439625.1:p.Ser850Tyr
NM_001042663.1:c.2480C>A	NP_001036128.1:p.Ser827Tyr
NM_001042664.1:c.2312C>A	NP_001036129.1:p.Ser771Tyr
NM_001042665.1:c.2312C>A	NP_001036130.1:p.Ser771Tyr
NM_001265592.1:c.2549C>A	NP_001252521.1:p.Ser850Tyr
NM_001265593.1:c.2519C>A	NP_001252522.1:p.Ser840Tyr
NM_001265594.1:c.2312C>A	NP_001252523.1:p.Ser771Tyr
NM_020631.4:c.2312C>A	NP_065682.2:p.Ser771Tyr
NM_198681.3:c.2543C>A	NP_941374.2:p.Ser848Tyr
NM_001042663.2:c.2480C>A	NP_001036128.1:p.Ser827Tyr
NM_001265594.2:c.2312C>A	NP_001252523.1:p.Ser771Tyr
NM_020631.5:c.2312C>A	NP_065682.2:p.Ser771Tyr
NM_001042663.3:c.2423C>A	NP_001036128.2:p.Ser808Tyr
NM_001265592.2:c.2423C>A	NP_001252521.2:p.Ser808Tyr
NM_020631.6:c.2312C>A MANE Select	NP_065682.2:p.Ser771Tyr
NM_198681.4:c.2312C>A	NP_941374.3:p.Ser771Tyr