Canonical Allele Identifier: CA561118

Gene: PLEKHG5

Linked Data

• ClinVar Variation Id: 297937
• ClinVar RCV Id: RCV000379985 ; RCV000546929 ; RCV001697711 ; RCV002429248
• dbSNP Id: rs367560509
• ExAC: 1:6528262 G / A
• gnomAD v2: 1-6528262-G-A
• gnomAD v3: 1-6468202-G-A
• gnomAD v4: 1-6468202-G-A
• MyVariant Identifiers: chr1:g.6528262G>A (hg19) ; chr1:g.6528262_6528268delinsAGACTTA (hg19) ; chr1:g.6468202G>A (hg38) ; chr1:g.6468202_6468208delinsAGACTTA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6468202G>A , CM000663.2:g.6468202G>A	GRCh38
NC_000001.10:g.6528262G>A , CM000663.1:g.6528262G>A	GRCh37
NC_000001.9:g.6450849G>A	NCBI36
NG_007978.1:g.56808C>T , LRG_262:g.56808C>T
NG_029910.1:g.2994C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340850.10:c.2634C>T	ENSP00000344570.5:p.Ser878=
ENST00000377728.8:c.2634C>T MANE Select	ENSP00000366957.3:p.Ser878=
ENST00000377740.5:c.2634C>T	ENSP00000366969.4:p.Ser878=
ENST00000377748.6:c.2808C>T	ENSP00000366977.2:p.Ser936=
ENST00000400913.6:c.2634C>T	ENSP00000383704.1:p.Ser878=
ENST00000400915.8:c.2745C>T	ENSP00000383706.4:p.Ser915=
ENST00000489097.6:n.3110C>T
ENST00000535355.6:c.2841C>T	ENSP00000441445.1:p.Ser947=
ENST00000537245.6:c.2745C>T	ENSP00000439625.2:p.Ser915=
ENST00000673471.2:c.2931C>T	ENSP00000500749.1:p.Ser977=
ENST00000674790.1:c.*2846C>T	ENSP00000502815.1:n.*2846C>T
ENST00000675123.1:c.2250-309C>T	ENSP00000502132.1:n.2250-309C>T
ENST00000675548.1:c.*2462C>T	ENSP00000502684.1:n.*2462C>T
ENST00000675694.1:c.2634C>T	ENSP00000501925.1:p.Ser878=
ENST00000675976.1:c.507C>T	ENSP00000501611.1:p.Ser169=
ENST00000340850.9:c.2634C>T	ENSP00000344570.5:p.Ser878=
ENST00000377725.5:c.2634C>T	ENSP00000366954.1:p.Ser878=
ENST00000377728.7:c.2634C>T	ENSP00000366957.3:p.Ser878=
ENST00000377732.5:c.2745C>T	ENSP00000366961.1:p.Ser915=
ENST00000377740.4:c.2481-309C>T	ENSP00000366969.3:n.2481-309C>T
ENST00000377748.5:c.2865C>T	ENSP00000366977.1:p.Ser955=
ENST00000400913.5:c.2634C>T	ENSP00000383704.1:p.Ser878=
ENST00000400915.7:c.2802C>T	ENSP00000383706.3:p.Ser934=
ENST00000487949.4:n.1836C>T
ENST00000489097.5:n.3110C>T
ENST00000535355.5:c.2841C>T	ENSP00000441445.1:p.Ser947=
ENST00000537245.5:c.2871C>T	ENSP00000439625.1:p.Ser957=
NM_001042663.1:c.2802C>T	NP_001036128.1:p.Ser934=
NM_001042664.1:c.2634C>T	NP_001036129.1:p.Ser878=
NM_001042665.1:c.2634C>T	NP_001036130.1:p.Ser878=
NM_001265592.1:c.2871C>T	NP_001252521.1:p.Ser957=
NM_001265593.1:c.2841C>T	NP_001252522.1:p.Ser947=
NM_001265594.1:c.2634C>T	NP_001252523.1:p.Ser878=
NM_020631.4:c.2634C>T	NP_065682.2:p.Ser878=
NM_198681.3:c.2865C>T	NP_941374.2:p.Ser955=
NM_001042663.2:c.2802C>T	NP_001036128.1:p.Ser934=
NM_001265594.2:c.2634C>T	NP_001252523.1:p.Ser878=
NM_020631.5:c.2634C>T	NP_065682.2:p.Ser878=
NM_001042663.3:c.2745C>T	NP_001036128.2:p.Ser915=
NM_001265592.2:c.2745C>T	NP_001252521.2:p.Ser915=
NM_020631.6:c.2634C>T MANE Select	NP_065682.2:p.Ser878=
NM_198681.4:c.2634C>T	NP_941374.3:p.Ser878=