Canonical Allele Identifier: CA338116148

Gene: PLEKHG5

Linked Data

• ClinVar Variation Id: 1021544
• ClinVar RCV Id: RCV001321328
• dbSNP Id: rs1390984037
• gnomAD v2: 1-6528357-G-A
• gnomAD v4: 1-6468297-G-A
• MyVariant Identifiers: chr1:g.6528357G>A (hg19) ; chr1:g.6468297G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6468297G>A , CM000663.2:g.6468297G>A	GRCh38
NC_000001.10:g.6528357G>A , CM000663.1:g.6528357G>A	GRCh37
NC_000001.9:g.6450944G>A	NCBI36
NG_007978.1:g.56713C>T , LRG_262:g.56713C>T
NG_029910.1:g.2899C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340850.10:c.2539C>T	ENSP00000344570.5:p.Pro847Ser
ENST00000377728.8:c.2539C>T MANE Select	ENSP00000366957.3:p.Pro847Ser
ENST00000377740.5:c.2539C>T	ENSP00000366969.4:p.Pro847Ser
ENST00000377748.6:c.2713C>T	ENSP00000366977.2:p.Pro905Ser
ENST00000400913.6:c.2539C>T	ENSP00000383704.1:p.Pro847Ser
ENST00000400915.8:c.2650C>T	ENSP00000383706.4:p.Pro884Ser
ENST00000489097.6:n.3015C>T
ENST00000535355.6:c.2746C>T	ENSP00000441445.1:p.Pro916Ser
ENST00000537245.6:c.2650C>T	ENSP00000439625.2:p.Pro884Ser
ENST00000673471.2:c.2836C>T	ENSP00000500749.1:p.Pro946Ser
ENST00000674790.1:c.*2751C>T	ENSP00000502815.1:n.*2751C>T
ENST00000675123.1:c.2250-404C>T	ENSP00000502132.1:n.2250-404C>T
ENST00000675548.1:c.*2367C>T	ENSP00000502684.1:n.*2367C>T
ENST00000675694.1:c.2539C>T	ENSP00000501925.1:p.Pro847Ser
ENST00000675976.1:c.412C>T	ENSP00000501611.1:p.Pro138Ser
ENST00000340850.9:c.2539C>T	ENSP00000344570.5:p.Pro847Ser
ENST00000377725.5:c.2539C>T	ENSP00000366954.1:p.Pro847Ser
ENST00000377728.7:c.2539C>T	ENSP00000366957.3:p.Pro847Ser
ENST00000377732.5:c.2650C>T	ENSP00000366961.1:p.Pro884Ser
ENST00000377740.4:c.2481-404C>T	ENSP00000366969.3:n.2481-404C>T
ENST00000377748.5:c.2770C>T	ENSP00000366977.1:p.Pro924Ser
ENST00000400913.5:c.2539C>T	ENSP00000383704.1:p.Pro847Ser
ENST00000400915.7:c.2707C>T	ENSP00000383706.3:p.Pro903Ser
ENST00000487949.4:n.1741C>T
ENST00000489097.5:n.3015C>T
ENST00000535355.5:c.2746C>T	ENSP00000441445.1:p.Pro916Ser
ENST00000537245.5:c.2776C>T	ENSP00000439625.1:p.Pro926Ser
NM_001042663.1:c.2707C>T	NP_001036128.1:p.Pro903Ser
NM_001042664.1:c.2539C>T	NP_001036129.1:p.Pro847Ser
NM_001042665.1:c.2539C>T	NP_001036130.1:p.Pro847Ser
NM_001265592.1:c.2776C>T	NP_001252521.1:p.Pro926Ser
NM_001265593.1:c.2746C>T	NP_001252522.1:p.Pro916Ser
NM_001265594.1:c.2539C>T	NP_001252523.1:p.Pro847Ser
NM_020631.4:c.2539C>T	NP_065682.2:p.Pro847Ser
NM_198681.3:c.2770C>T	NP_941374.2:p.Pro924Ser
NM_001042663.2:c.2707C>T	NP_001036128.1:p.Pro903Ser
NM_001265594.2:c.2539C>T	NP_001252523.1:p.Pro847Ser
NM_020631.5:c.2539C>T	NP_065682.2:p.Pro847Ser
NM_001042663.3:c.2650C>T	NP_001036128.2:p.Pro884Ser
NM_001265592.2:c.2650C>T	NP_001252521.2:p.Pro884Ser
NM_020631.6:c.2539C>T MANE Select	NP_065682.2:p.Pro847Ser
NM_198681.4:c.2539C>T	NP_941374.3:p.Pro847Ser