Canonical Allele Identifier: CA562052

Gene: PLEKHG5

Linked Data

• dbSNP Id: rs775979814
• ExAC: 1:6537640 G / A
• gnomAD v2: 1-6537640-G-A
• gnomAD v4: 1-6477580-G-A
• MyVariant Identifiers: chr1:g.6537640G>A (hg19) ; chr1:g.6477580G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6477580G>A , CM000663.2:g.6477580G>A	GRCh38
NC_000001.10:g.6537640G>A , CM000663.1:g.6537640G>A	GRCh37
NC_000001.9:g.6460227G>A	NCBI36
NG_007978.1:g.47430C>T , LRG_262:g.47430C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340850.10:c.-9C>T	ENSP00000344570.5:n.-9C>T
ENST00000377728.8:c.-9C>T MANE Select	ENSP00000366957.3:n.-9C>T
ENST00000377740.5:c.-9C>T	ENSP00000366969.4:n.-9C>T
ENST00000377748.6:c.103C>T	ENSP00000366977.2:p.His35Tyr
ENST00000400913.6:c.-9C>T	ENSP00000383704.1:n.-9C>T
ENST00000400915.8:c.103C>T	ENSP00000383706.4:p.His35Tyr
ENST00000489097.6:n.9C>T
ENST00000535355.6:c.199C>T	ENSP00000441445.1:p.His67Tyr
ENST00000537245.6:c.103C>T	ENSP00000439625.2:p.His35Tyr
ENST00000673471.2:c.289C>T	ENSP00000500749.1:p.His97Tyr
ENST00000674790.1:c.*204C>T	ENSP00000502815.1:n.*204C>T
ENST00000674803.1:n.222C>T
ENST00000675093.1:c.-9C>T	ENSP00000502687.1:n.-9C>T
ENST00000675123.1:c.-9C>T	ENSP00000502132.1:n.-9C>T
ENST00000675548.1:c.177C>T	ENSP00000502684.1:p.Ser59=
ENST00000675655.1:n.198C>T
ENST00000675694.1:c.-9C>T	ENSP00000501925.1:n.-9C>T
ENST00000676287.1:c.-9C>T	ENSP00000502810.1:n.-9C>T
ENST00000676362.1:n.215C>T
ENST00000340850.9:c.-9C>T	ENSP00000344570.5:n.-9C>T
ENST00000377725.5:c.-9C>T	ENSP00000366954.1:n.-9C>T
ENST00000377728.7:c.-9C>T	ENSP00000366957.3:n.-9C>T
ENST00000377732.5:c.103C>T	ENSP00000366961.1:p.His35Tyr
ENST00000377740.4:c.223C>T	ENSP00000366969.3:p.His75Tyr
ENST00000377748.5:c.223C>T	ENSP00000366977.1:p.His75Tyr
ENST00000400913.5:c.-9C>T	ENSP00000383704.1:n.-9C>T
ENST00000400915.7:c.160C>T	ENSP00000383706.3:p.His54Tyr
ENST00000489097.5:n.9C>T
ENST00000535355.5:c.199C>T	ENSP00000441445.1:p.His67Tyr
ENST00000537245.5:c.229C>T	ENSP00000439625.1:p.His77Tyr
NM_001042663.1:c.160C>T	NP_001036128.1:p.His54Tyr
NM_001042664.1:c.-9C>T	NP_001036129.1:n.-9C>T
NM_001042665.1:c.-9C>T	NP_001036130.1:n.-9C>T
NM_001265592.1:c.229C>T	NP_001252521.1:p.His77Tyr
NM_001265593.1:c.199C>T	NP_001252522.1:p.His67Tyr
NM_001265594.1:c.-9C>T	NP_001252523.1:n.-9C>T
NM_020631.4:c.-9C>T	NP_065682.2:n.-9C>T
NM_198681.3:c.223C>T	NP_941374.2:p.His75Tyr
NM_001042663.2:c.160C>T	NP_001036128.1:p.His54Tyr
NM_001265594.2:c.-9C>T	NP_001252523.1:n.-9C>T
NM_020631.5:c.-9C>T	NP_065682.2:n.-9C>T
NM_001042663.3:c.103C>T	NP_001036128.2:p.His35Tyr
NM_001265592.2:c.103C>T	NP_001252521.2:p.His35Tyr
NM_020631.6:c.-9C>T MANE Select	NP_065682.2:n.-9C>T
NM_198681.4:c.-9C>T	NP_941374.3:n.-9C>T