Canonical Allele Identifier: CA338115800

Gene: PLEKHG5

Linked Data

• gnomAD v4: 1-6468230-C-A
• MyVariant Identifiers: chr1:g.6528290C>A (hg19) ; chr1:g.6468230C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6468230C>A , CM000663.2:g.6468230C>A	GRCh38
NC_000001.10:g.6528290C>A , CM000663.1:g.6528290C>A	GRCh37
NC_000001.9:g.6450877C>A	NCBI36
NG_007978.1:g.56780G>T , LRG_262:g.56780G>T
NG_029910.1:g.2966G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340850.10:c.2606G>T	ENSP00000344570.5:p.Cys869Phe
ENST00000377728.8:c.2606G>T MANE Select	ENSP00000366957.3:p.Cys869Phe
ENST00000377740.5:c.2606G>T	ENSP00000366969.4:p.Cys869Phe
ENST00000377748.6:c.2780G>T	ENSP00000366977.2:p.Cys927Phe
ENST00000400913.6:c.2606G>T	ENSP00000383704.1:p.Cys869Phe
ENST00000400915.8:c.2717G>T	ENSP00000383706.4:p.Cys906Phe
ENST00000489097.6:n.3082G>T
ENST00000535355.6:c.2813G>T	ENSP00000441445.1:p.Cys938Phe
ENST00000537245.6:c.2717G>T	ENSP00000439625.2:p.Cys906Phe
ENST00000673471.2:c.2903G>T	ENSP00000500749.1:p.Cys968Phe
ENST00000674790.1:c.*2818G>T	ENSP00000502815.1:n.*2818G>T
ENST00000675123.1:c.2250-337G>T	ENSP00000502132.1:n.2250-337G>T
ENST00000675548.1:c.*2434G>T	ENSP00000502684.1:n.*2434G>T
ENST00000675694.1:c.2606G>T	ENSP00000501925.1:p.Cys869Phe
ENST00000675976.1:c.479G>T	ENSP00000501611.1:p.Cys160Phe
ENST00000340850.9:c.2606G>T	ENSP00000344570.5:p.Cys869Phe
ENST00000377725.5:c.2606G>T	ENSP00000366954.1:p.Cys869Phe
ENST00000377728.7:c.2606G>T	ENSP00000366957.3:p.Cys869Phe
ENST00000377732.5:c.2717G>T	ENSP00000366961.1:p.Cys906Phe
ENST00000377740.4:c.2481-337G>T	ENSP00000366969.3:n.2481-337G>T
ENST00000377748.5:c.2837G>T	ENSP00000366977.1:p.Cys946Phe
ENST00000400913.5:c.2606G>T	ENSP00000383704.1:p.Cys869Phe
ENST00000400915.7:c.2774G>T	ENSP00000383706.3:p.Cys925Phe
ENST00000487949.4:n.1808G>T
ENST00000489097.5:n.3082G>T
ENST00000535355.5:c.2813G>T	ENSP00000441445.1:p.Cys938Phe
ENST00000537245.5:c.2843G>T	ENSP00000439625.1:p.Cys948Phe
NM_001042663.1:c.2774G>T	NP_001036128.1:p.Cys925Phe
NM_001042664.1:c.2606G>T	NP_001036129.1:p.Cys869Phe
NM_001042665.1:c.2606G>T	NP_001036130.1:p.Cys869Phe
NM_001265592.1:c.2843G>T	NP_001252521.1:p.Cys948Phe
NM_001265593.1:c.2813G>T	NP_001252522.1:p.Cys938Phe
NM_001265594.1:c.2606G>T	NP_001252523.1:p.Cys869Phe
NM_020631.4:c.2606G>T	NP_065682.2:p.Cys869Phe
NM_198681.3:c.2837G>T	NP_941374.2:p.Cys946Phe
NM_001042663.2:c.2774G>T	NP_001036128.1:p.Cys925Phe
NM_001265594.2:c.2606G>T	NP_001252523.1:p.Cys869Phe
NM_020631.5:c.2606G>T	NP_065682.2:p.Cys869Phe
NM_001042663.3:c.2717G>T	NP_001036128.2:p.Cys906Phe
NM_001265592.2:c.2717G>T	NP_001252521.2:p.Cys906Phe
NM_020631.6:c.2606G>T MANE Select	NP_065682.2:p.Cys869Phe
NM_198681.4:c.2606G>T	NP_941374.3:p.Cys869Phe