Canonical Allele Identifier: CA561872

Gene: PLEKHG5

Linked Data

• ClinVar Variation Id: 767549
• ClinVar RCV Id: RCV000946320
• dbSNP Id: rs369888151
• ExAC: 1:6534551 G / A
• gnomAD v2: 1-6534551-G-A
• gnomAD v3: 1-6474491-G-A
• gnomAD v4: 1-6474491-G-A
• MyVariant Identifiers: chr1:g.6534551G>A (hg19) ; chr1:g.6474491G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6474491G>A , CM000663.2:g.6474491G>A	GRCh38
NC_000001.10:g.6534551G>A , CM000663.1:g.6534551G>A	GRCh37
NC_000001.9:g.6457138G>A	NCBI36
NG_007978.1:g.50519C>T , LRG_262:g.50519C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000340850.10:c.399C>T	ENSP00000344570.5:p.Phe133=
ENST00000377728.8:c.399C>T MANE Select	ENSP00000366957.3:p.Phe133=
ENST00000377740.5:c.399C>T	ENSP00000366969.4:p.Phe133=
ENST00000377748.6:c.573C>T	ENSP00000366977.2:p.Phe191=
ENST00000400913.6:c.399C>T	ENSP00000383704.1:p.Phe133=
ENST00000400915.8:c.510C>T	ENSP00000383706.4:p.Phe170=
ENST00000489097.6:n.875C>T
ENST00000535355.6:c.606C>T	ENSP00000441445.1:p.Phe202=
ENST00000537245.6:c.510C>T	ENSP00000439625.2:p.Phe170=
ENST00000673471.2:c.696C>T	ENSP00000500749.1:p.Phe232=
ENST00000674790.1:c.*611C>T	ENSP00000502815.1:n.*611C>T
ENST00000675123.1:c.399C>T	ENSP00000502132.1:p.Phe133=
ENST00000675548.1:c.*227C>T	ENSP00000502684.1:n.*227C>T
ENST00000675694.1:c.399C>T	ENSP00000501925.1:p.Phe133=
ENST00000676255.1:c.361C>T	ENSP00000502459.1:n.361C>T
ENST00000340850.9:c.399C>T	ENSP00000344570.5:p.Phe133=
ENST00000377725.5:c.399C>T	ENSP00000366954.1:p.Phe133=
ENST00000377728.7:c.399C>T	ENSP00000366957.3:p.Phe133=
ENST00000377732.5:c.510C>T	ENSP00000366961.1:p.Phe170=
ENST00000377740.4:c.630C>T	ENSP00000366969.3:p.Phe210=
ENST00000377748.5:c.630C>T	ENSP00000366977.1:p.Phe210=
ENST00000400913.5:c.399C>T	ENSP00000383704.1:p.Phe133=
ENST00000400915.7:c.567C>T	ENSP00000383706.3:p.Phe189=
ENST00000489097.5:n.875C>T
ENST00000535355.5:c.606C>T	ENSP00000441445.1:p.Phe202=
ENST00000537245.5:c.636C>T	ENSP00000439625.1:p.Phe212=
NM_001042663.1:c.567C>T	NP_001036128.1:p.Phe189=
NM_001042664.1:c.399C>T	NP_001036129.1:p.Phe133=
NM_001042665.1:c.399C>T	NP_001036130.1:p.Phe133=
NM_001265592.1:c.636C>T	NP_001252521.1:p.Phe212=
NM_001265593.1:c.606C>T	NP_001252522.1:p.Phe202=
NM_001265594.1:c.399C>T	NP_001252523.1:p.Phe133=
NM_020631.4:c.399C>T	NP_065682.2:p.Phe133=
NM_198681.3:c.630C>T	NP_941374.2:p.Phe210=
NM_001042663.2:c.567C>T	NP_001036128.1:p.Phe189=
NM_001265594.2:c.399C>T	NP_001252523.1:p.Phe133=
NM_020631.5:c.399C>T	NP_065682.2:p.Phe133=
NM_001042663.3:c.510C>T	NP_001036128.2:p.Phe170=
NM_001265592.2:c.510C>T	NP_001252521.2:p.Phe170=
NM_020631.6:c.399C>T MANE Select	NP_065682.2:p.Phe133=
NM_198681.4:c.399C>T	NP_941374.3:p.Phe133=