Canonical Allele Identifier: CA416022850

Gene: PLEKHG5

Linked Data

• ClinVar Variation Id: 1649328
• ClinVar RCV Id: RCV002163172
• dbSNP Id: rs1243221708
• gnomAD v2: 1-6530909-C-T
• gnomAD v3: 1-6470849-C-T
• gnomAD v4: 1-6470849-C-T
• MyVariant Identifiers: chr1:g.6530909C>T (hg19) ; chr1:g.6470849C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6470849C>T , CM000663.2:g.6470849C>T	GRCh38
NC_000001.10:g.6530909C>T , CM000663.1:g.6530909C>T	GRCh37
NC_000001.9:g.6453496C>T	NCBI36
NG_007978.1:g.54161G>A , LRG_262:g.54161G>A
NG_029910.1:g.347G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340850.10:c.1428G>A	ENSP00000344570.5:p.Lys476=
ENST00000377728.8:c.1428G>A MANE Select	ENSP00000366957.3:p.Lys476=
ENST00000377740.5:c.1428G>A	ENSP00000366969.4:p.Lys476=
ENST00000377748.6:c.1602G>A	ENSP00000366977.2:p.Lys534=
ENST00000400913.6:c.1428G>A	ENSP00000383704.1:p.Lys476=
ENST00000400915.8:c.1539G>A	ENSP00000383706.4:p.Lys513=
ENST00000489097.6:n.1904G>A
ENST00000535355.6:c.1635G>A	ENSP00000441445.1:p.Lys545=
ENST00000537245.6:c.1539G>A	ENSP00000439625.2:p.Lys513=
ENST00000673471.2:c.1725G>A	ENSP00000500749.1:p.Lys575=
ENST00000674685.1:n.461G>A
ENST00000674790.1:c.*1640G>A	ENSP00000502815.1:n.*1640G>A
ENST00000674943.1:n.90G>A
ENST00000675123.1:c.1428G>A	ENSP00000502132.1:p.Lys476=
ENST00000675548.1:c.*1256G>A	ENSP00000502684.1:n.*1256G>A
ENST00000675694.1:c.1428G>A	ENSP00000501925.1:p.Lys476=
ENST00000340850.9:c.1428G>A	ENSP00000344570.5:p.Lys476=
ENST00000377725.5:c.1428G>A	ENSP00000366954.1:p.Lys476=
ENST00000377728.7:c.1428G>A	ENSP00000366957.3:p.Lys476=
ENST00000377732.5:c.1539G>A	ENSP00000366961.1:p.Lys513=
ENST00000377740.4:c.1659G>A	ENSP00000366969.3:p.Lys553=
ENST00000377748.5:c.1659G>A	ENSP00000366977.1:p.Lys553=
ENST00000400913.5:c.1428G>A	ENSP00000383704.1:p.Lys476=
ENST00000400915.7:c.1596G>A	ENSP00000383706.3:p.Lys532=
ENST00000487949.4:n.630G>A
ENST00000489097.5:n.1904G>A
ENST00000535355.5:c.1635G>A	ENSP00000441445.1:p.Lys545=
ENST00000537245.5:c.1665G>A	ENSP00000439625.1:p.Lys555=
NM_001042663.1:c.1596G>A	NP_001036128.1:p.Lys532=
NM_001042664.1:c.1428G>A	NP_001036129.1:p.Lys476=
NM_001042665.1:c.1428G>A	NP_001036130.1:p.Lys476=
NM_001265592.1:c.1665G>A	NP_001252521.1:p.Lys555=
NM_001265593.1:c.1635G>A	NP_001252522.1:p.Lys545=
NM_001265594.1:c.1428G>A	NP_001252523.1:p.Lys476=
NM_020631.4:c.1428G>A	NP_065682.2:p.Lys476=
NM_198681.3:c.1659G>A	NP_941374.2:p.Lys553=
NM_001042663.2:c.1596G>A	NP_001036128.1:p.Lys532=
NM_001265594.2:c.1428G>A	NP_001252523.1:p.Lys476=
NM_020631.5:c.1428G>A	NP_065682.2:p.Lys476=
NM_001042663.3:c.1539G>A	NP_001036128.2:p.Lys513=
NM_001265592.2:c.1539G>A	NP_001252521.2:p.Lys513=
NM_020631.6:c.1428G>A MANE Select	NP_065682.2:p.Lys476=
NM_198681.4:c.1428G>A	NP_941374.3:p.Lys476=