Canonical Allele Identifier: CA561501

Gene: PLEKHG5

Linked Data

• ClinVar Variation Id: 1561708
• ClinVar RCV Id: RCV002212026
• dbSNP Id: rs570632527
• ExAC: 1:6530831 G / A
• gnomAD v2: 1-6530831-G-A
• gnomAD v3: 1-6470771-G-A
• gnomAD v4: 1-6470771-G-A
• MyVariant Identifiers: chr1:g.6530831G>A (hg19) ; chr1:g.6470771G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6470771G>A , CM000663.2:g.6470771G>A	GRCh38
NC_000001.10:g.6530831G>A , CM000663.1:g.6530831G>A	GRCh37
NC_000001.9:g.6453418G>A	NCBI36
NG_007978.1:g.54239C>T , LRG_262:g.54239C>T
NG_029910.1:g.425C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340850.10:c.1506C>T	ENSP00000344570.5:p.Thr502=
ENST00000377728.8:c.1506C>T MANE Select	ENSP00000366957.3:p.Thr502=
ENST00000377740.5:c.1506C>T	ENSP00000366969.4:p.Thr502=
ENST00000377748.6:c.1680C>T	ENSP00000366977.2:p.Thr560=
ENST00000400913.6:c.1506C>T	ENSP00000383704.1:p.Thr502=
ENST00000400915.8:c.1617C>T	ENSP00000383706.4:p.Thr539=
ENST00000489097.6:n.1982C>T
ENST00000535355.6:c.1713C>T	ENSP00000441445.1:p.Thr571=
ENST00000537245.6:c.1617C>T	ENSP00000439625.2:p.Thr539=
ENST00000673471.2:c.1803C>T	ENSP00000500749.1:p.Thr601=
ENST00000674685.1:n.539C>T
ENST00000674790.1:c.*1718C>T	ENSP00000502815.1:n.*1718C>T
ENST00000674943.1:n.168C>T
ENST00000675123.1:c.1506C>T	ENSP00000502132.1:p.Thr502=
ENST00000675548.1:c.*1334C>T	ENSP00000502684.1:n.*1334C>T
ENST00000675694.1:c.1506C>T	ENSP00000501925.1:p.Thr502=
ENST00000340850.9:c.1506C>T	ENSP00000344570.5:p.Thr502=
ENST00000377725.5:c.1506C>T	ENSP00000366954.1:p.Thr502=
ENST00000377728.7:c.1506C>T	ENSP00000366957.3:p.Thr502=
ENST00000377732.5:c.1617C>T	ENSP00000366961.1:p.Thr539=
ENST00000377740.4:c.1737C>T	ENSP00000366969.3:p.Thr579=
ENST00000377748.5:c.1737C>T	ENSP00000366977.1:p.Thr579=
ENST00000400913.5:c.1506C>T	ENSP00000383704.1:p.Thr502=
ENST00000400915.7:c.1674C>T	ENSP00000383706.3:p.Thr558=
ENST00000487949.4:n.708C>T
ENST00000489097.5:n.1982C>T
ENST00000535355.5:c.1713C>T	ENSP00000441445.1:p.Thr571=
ENST00000537245.5:c.1743C>T	ENSP00000439625.1:p.Thr581=
NM_001042663.1:c.1674C>T	NP_001036128.1:p.Thr558=
NM_001042664.1:c.1506C>T	NP_001036129.1:p.Thr502=
NM_001042665.1:c.1506C>T	NP_001036130.1:p.Thr502=
NM_001265592.1:c.1743C>T	NP_001252521.1:p.Thr581=
NM_001265593.1:c.1713C>T	NP_001252522.1:p.Thr571=
NM_001265594.1:c.1506C>T	NP_001252523.1:p.Thr502=
NM_020631.4:c.1506C>T	NP_065682.2:p.Thr502=
NM_198681.3:c.1737C>T	NP_941374.2:p.Thr579=
NM_001042663.2:c.1674C>T	NP_001036128.1:p.Thr558=
NM_001265594.2:c.1506C>T	NP_001252523.1:p.Thr502=
NM_020631.5:c.1506C>T	NP_065682.2:p.Thr502=
NM_001042663.3:c.1617C>T	NP_001036128.2:p.Thr539=
NM_001265592.2:c.1617C>T	NP_001252521.2:p.Thr539=
NM_020631.6:c.1506C>T MANE Select	NP_065682.2:p.Thr502=
NM_198681.4:c.1506C>T	NP_941374.3:p.Thr502=