Canonical Allele Identifier: CA561115

Gene: PLEKHG5

Linked Data

• ClinVar Variation Id: 864008
• ClinVar RCV Id: RCV001071098
• dbSNP Id: rs769702301
• ExAC: 1:6528254 C / T
• gnomAD v2: 1-6528254-C-T
• gnomAD v3: 1-6468194-C-T
• gnomAD v4: 1-6468194-C-T
• COSMIC: COSM4642023 ; COSM4642024 ; COSM4642025
• MyVariant Identifiers: chr1:g.6528254C>T (hg19) ; chr1:g.6468194C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6468194C>T , CM000663.2:g.6468194C>T	GRCh38
NC_000001.10:g.6528254C>T , CM000663.1:g.6528254C>T	GRCh37
NC_000001.9:g.6450841C>T	NCBI36
NG_007978.1:g.56816G>A , LRG_262:g.56816G>A
NG_029910.1:g.3002G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000340850.10:c.2642G>A	ENSP00000344570.5:p.Ser881Asn
ENST00000377728.8:c.2642G>A MANE Select	ENSP00000366957.3:p.Ser881Asn
ENST00000377740.5:c.2642G>A	ENSP00000366969.4:p.Ser881Asn
ENST00000377748.6:c.2816G>A	ENSP00000366977.2:p.Ser939Asn
ENST00000400913.6:c.2642G>A	ENSP00000383704.1:p.Ser881Asn
ENST00000400915.8:c.2753G>A	ENSP00000383706.4:p.Ser918Asn
ENST00000489097.6:n.3118G>A
ENST00000535355.6:c.2849G>A	ENSP00000441445.1:p.Ser950Asn
ENST00000537245.6:c.2753G>A	ENSP00000439625.2:p.Ser918Asn
ENST00000673471.2:c.2939G>A	ENSP00000500749.1:p.Ser980Asn
ENST00000674790.1:c.*2854G>A	ENSP00000502815.1:n.*2854G>A
ENST00000675123.1:c.2250-301G>A	ENSP00000502132.1:n.2250-301G>A
ENST00000675548.1:c.*2470G>A	ENSP00000502684.1:n.*2470G>A
ENST00000675694.1:c.2642G>A	ENSP00000501925.1:p.Ser881Asn
ENST00000675976.1:c.515G>A	ENSP00000501611.1:p.Ser172Asn
ENST00000340850.9:c.2642G>A	ENSP00000344570.5:p.Ser881Asn
ENST00000377725.5:c.2642G>A	ENSP00000366954.1:p.Ser881Asn
ENST00000377728.7:c.2642G>A	ENSP00000366957.3:p.Ser881Asn
ENST00000377732.5:c.2753G>A	ENSP00000366961.1:p.Ser918Asn
ENST00000377740.4:c.2481-301G>A	ENSP00000366969.3:n.2481-301G>A
ENST00000377748.5:c.2873G>A	ENSP00000366977.1:p.Ser958Asn
ENST00000400913.5:c.2642G>A	ENSP00000383704.1:p.Ser881Asn
ENST00000400915.7:c.2810G>A	ENSP00000383706.3:p.Ser937Asn
ENST00000487949.4:n.1844G>A
ENST00000489097.5:n.3118G>A
ENST00000535355.5:c.2849G>A	ENSP00000441445.1:p.Ser950Asn
ENST00000537245.5:c.2879G>A	ENSP00000439625.1:p.Ser960Asn
NM_001042663.1:c.2810G>A	NP_001036128.1:p.Ser937Asn
NM_001042664.1:c.2642G>A	NP_001036129.1:p.Ser881Asn
NM_001042665.1:c.2642G>A	NP_001036130.1:p.Ser881Asn
NM_001265592.1:c.2879G>A	NP_001252521.1:p.Ser960Asn
NM_001265593.1:c.2849G>A	NP_001252522.1:p.Ser950Asn
NM_001265594.1:c.2642G>A	NP_001252523.1:p.Ser881Asn
NM_020631.4:c.2642G>A	NP_065682.2:p.Ser881Asn
NM_198681.3:c.2873G>A	NP_941374.2:p.Ser958Asn
NM_001042663.2:c.2810G>A	NP_001036128.1:p.Ser937Asn
NM_001265594.2:c.2642G>A	NP_001252523.1:p.Ser881Asn
NM_020631.5:c.2642G>A	NP_065682.2:p.Ser881Asn
NM_001042663.3:c.2753G>A	NP_001036128.2:p.Ser918Asn
NM_001265592.2:c.2753G>A	NP_001252521.2:p.Ser918Asn
NM_020631.6:c.2642G>A MANE Select	NP_065682.2:p.Ser881Asn
NM_198681.4:c.2642G>A	NP_941374.3:p.Ser881Asn