Canonical Allele Identifier: CA338139057

Gene: PLEKHG5

Linked Data

• dbSNP Id: rs1430911880
• gnomAD v2: 1-6534523-G-A
• gnomAD v4: 1-6474463-G-A
• MyVariant Identifiers: chr1:g.6534523G>A (hg19) ; chr1:g.6474463G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6474463G>A , CM000663.2:g.6474463G>A	GRCh38
NC_000001.10:g.6534523G>A , CM000663.1:g.6534523G>A	GRCh37
NC_000001.9:g.6457110G>A	NCBI36
NG_007978.1:g.50547C>T , LRG_262:g.50547C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340850.10:c.427C>T	ENSP00000344570.5:p.Leu143Phe
ENST00000377728.8:c.427C>T MANE Select	ENSP00000366957.3:p.Leu143Phe
ENST00000377740.5:c.427C>T	ENSP00000366969.4:p.Leu143Phe
ENST00000377748.6:c.601C>T	ENSP00000366977.2:p.Leu201Phe
ENST00000400913.6:c.427C>T	ENSP00000383704.1:p.Leu143Phe
ENST00000400915.8:c.538C>T	ENSP00000383706.4:p.Leu180Phe
ENST00000489097.6:n.903C>T
ENST00000535355.6:c.634C>T	ENSP00000441445.1:p.Leu212Phe
ENST00000537245.6:c.538C>T	ENSP00000439625.2:p.Leu180Phe
ENST00000673471.2:c.724C>T	ENSP00000500749.1:p.Leu242Phe
ENST00000674790.1:c.*639C>T	ENSP00000502815.1:n.*639C>T
ENST00000675123.1:c.427C>T	ENSP00000502132.1:p.Leu143Phe
ENST00000675548.1:c.*255C>T	ENSP00000502684.1:n.*255C>T
ENST00000675694.1:c.427C>T	ENSP00000501925.1:p.Leu143Phe
ENST00000676255.1:c.389C>T	ENSP00000502459.1:n.389C>T
ENST00000340850.9:c.427C>T	ENSP00000344570.5:p.Leu143Phe
ENST00000377725.5:c.427C>T	ENSP00000366954.1:p.Leu143Phe
ENST00000377728.7:c.427C>T	ENSP00000366957.3:p.Leu143Phe
ENST00000377732.5:c.538C>T	ENSP00000366961.1:p.Leu180Phe
ENST00000377740.4:c.658C>T	ENSP00000366969.3:p.Leu220Phe
ENST00000377748.5:c.658C>T	ENSP00000366977.1:p.Leu220Phe
ENST00000400913.5:c.427C>T	ENSP00000383704.1:p.Leu143Phe
ENST00000400915.7:c.595C>T	ENSP00000383706.3:p.Leu199Phe
ENST00000489097.5:n.903C>T
ENST00000535355.5:c.634C>T	ENSP00000441445.1:p.Leu212Phe
ENST00000537245.5:c.664C>T	ENSP00000439625.1:p.Leu222Phe
NM_001042663.1:c.595C>T	NP_001036128.1:p.Leu199Phe
NM_001042664.1:c.427C>T	NP_001036129.1:p.Leu143Phe
NM_001042665.1:c.427C>T	NP_001036130.1:p.Leu143Phe
NM_001265592.1:c.664C>T	NP_001252521.1:p.Leu222Phe
NM_001265593.1:c.634C>T	NP_001252522.1:p.Leu212Phe
NM_001265594.1:c.427C>T	NP_001252523.1:p.Leu143Phe
NM_020631.4:c.427C>T	NP_065682.2:p.Leu143Phe
NM_198681.3:c.658C>T	NP_941374.2:p.Leu220Phe
NM_001042663.2:c.595C>T	NP_001036128.1:p.Leu199Phe
NM_001265594.2:c.427C>T	NP_001252523.1:p.Leu143Phe
NM_020631.5:c.427C>T	NP_065682.2:p.Leu143Phe
NM_001042663.3:c.538C>T	NP_001036128.2:p.Leu180Phe
NM_001265592.2:c.538C>T	NP_001252521.2:p.Leu180Phe
NM_020631.6:c.427C>T MANE Select	NP_065682.2:p.Leu143Phe
NM_198681.4:c.427C>T	NP_941374.3:p.Leu143Phe