Canonical Allele Identifier: CA338132711

Gene: PLEKHG5

Linked Data

• ClinVar Variation Id: 2283595
• ClinVar RCV Id: RCV002844868
• dbSNP Id: rs1398980726
• gnomAD v2: 1-6532627-G-A
• gnomAD v4: 1-6472567-G-A
• MyVariant Identifiers: chr1:g.6532627G>A (hg19) ; chr1:g.6472567G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6472567G>A , CM000663.2:g.6472567G>A	GRCh38
NC_000001.10:g.6532627G>A , CM000663.1:g.6532627G>A	GRCh37
NC_000001.9:g.6455214G>A	NCBI36
NG_007978.1:g.52443C>T , LRG_262:g.52443C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340850.10:c.1040C>T	ENSP00000344570.5:p.Thr347Met
ENST00000377728.8:c.1040C>T MANE Select	ENSP00000366957.3:p.Thr347Met
ENST00000377740.5:c.1040C>T	ENSP00000366969.4:p.Thr347Met
ENST00000377748.6:c.1214C>T	ENSP00000366977.2:p.Thr405Met
ENST00000400913.6:c.1040C>T	ENSP00000383704.1:p.Thr347Met
ENST00000400915.8:c.1151C>T	ENSP00000383706.4:p.Thr384Met
ENST00000489097.6:n.1516C>T
ENST00000535355.6:c.1247C>T	ENSP00000441445.1:p.Thr416Met
ENST00000537245.6:c.1151C>T	ENSP00000439625.2:p.Thr384Met
ENST00000673471.2:c.1337C>T	ENSP00000500749.1:p.Thr446Met
ENST00000674790.1:c.*1252C>T	ENSP00000502815.1:n.*1252C>T
ENST00000675123.1:c.1040C>T	ENSP00000502132.1:p.Thr347Met
ENST00000675548.1:c.*868C>T	ENSP00000502684.1:n.*868C>T
ENST00000675694.1:c.1040C>T	ENSP00000501925.1:p.Thr347Met
ENST00000340850.9:c.1040C>T	ENSP00000344570.5:p.Thr347Met
ENST00000377725.5:c.1040C>T	ENSP00000366954.1:p.Thr347Met
ENST00000377728.7:c.1040C>T	ENSP00000366957.3:p.Thr347Met
ENST00000377732.5:c.1151C>T	ENSP00000366961.1:p.Thr384Met
ENST00000377740.4:c.1271C>T	ENSP00000366969.3:p.Thr424Met
ENST00000377748.5:c.1271C>T	ENSP00000366977.1:p.Thr424Met
ENST00000400913.5:c.1040C>T	ENSP00000383704.1:p.Thr347Met
ENST00000400915.7:c.1208C>T	ENSP00000383706.3:p.Thr403Met
ENST00000489097.5:n.1516C>T
ENST00000535355.5:c.1247C>T	ENSP00000441445.1:p.Thr416Met
ENST00000537245.5:c.1277C>T	ENSP00000439625.1:p.Thr426Met
NM_001042663.1:c.1208C>T	NP_001036128.1:p.Thr403Met
NM_001042664.1:c.1040C>T	NP_001036129.1:p.Thr347Met
NM_001042665.1:c.1040C>T	NP_001036130.1:p.Thr347Met
NM_001265592.1:c.1277C>T	NP_001252521.1:p.Thr426Met
NM_001265593.1:c.1247C>T	NP_001252522.1:p.Thr416Met
NM_001265594.1:c.1040C>T	NP_001252523.1:p.Thr347Met
NM_020631.4:c.1040C>T	NP_065682.2:p.Thr347Met
NM_198681.3:c.1271C>T	NP_941374.2:p.Thr424Met
NM_001042663.2:c.1208C>T	NP_001036128.1:p.Thr403Met
NM_001265594.2:c.1040C>T	NP_001252523.1:p.Thr347Met
NM_020631.5:c.1040C>T	NP_065682.2:p.Thr347Met
NM_001042663.3:c.1151C>T	NP_001036128.2:p.Thr384Met
NM_001265592.2:c.1151C>T	NP_001252521.2:p.Thr384Met
NM_020631.6:c.1040C>T MANE Select	NP_065682.2:p.Thr347Met
NM_198681.4:c.1040C>T	NP_941374.3:p.Thr347Met