Canonical Allele Identifier: CA561549

Gene: PLEKHG5

Linked Data

• ClinVar Variation Id: 282723
• ClinVar RCV Id: RCV001078704 ; RCV002379115
• dbSNP Id: rs776561735
• ExAC: 1:6531071 G / A
• gnomAD v2: 1-6531071-G-A
• gnomAD v3: 1-6471011-G-A
• gnomAD v4: 1-6471011-G-A
• MyVariant Identifiers: chr1:g.6531071G>A (hg19) ; chr1:g.6471011G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6471011G>A , CM000663.2:g.6471011G>A	GRCh38
NC_000001.10:g.6531071G>A , CM000663.1:g.6531071G>A	GRCh37
NC_000001.9:g.6453658G>A	NCBI36
NG_007978.1:g.53999C>T , LRG_262:g.53999C>T
NG_029910.1:g.185C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000340850.10:c.1371C>T	ENSP00000344570.5:p.Asp457=
ENST00000377728.8:c.1371C>T MANE Select	ENSP00000366957.3:p.Asp457=
ENST00000377740.5:c.1371C>T	ENSP00000366969.4:p.Asp457=
ENST00000377748.6:c.1545C>T	ENSP00000366977.2:p.Asp515=
ENST00000400913.6:c.1371C>T	ENSP00000383704.1:p.Asp457=
ENST00000400915.8:c.1482C>T	ENSP00000383706.4:p.Asp494=
ENST00000489097.6:n.1847C>T
ENST00000535355.6:c.1578C>T	ENSP00000441445.1:p.Asp526=
ENST00000537245.6:c.1482C>T	ENSP00000439625.2:p.Asp494=
ENST00000673471.2:c.1668C>T	ENSP00000500749.1:p.Asp556=
ENST00000674685.1:n.404C>T
ENST00000674790.1:c.*1583C>T	ENSP00000502815.1:n.*1583C>T
ENST00000675123.1:c.1371C>T	ENSP00000502132.1:p.Asp457=
ENST00000675548.1:c.*1199C>T	ENSP00000502684.1:n.*1199C>T
ENST00000675694.1:c.1371C>T	ENSP00000501925.1:p.Asp457=
ENST00000340850.9:c.1371C>T	ENSP00000344570.5:p.Asp457=
ENST00000377725.5:c.1371C>T	ENSP00000366954.1:p.Asp457=
ENST00000377728.7:c.1371C>T	ENSP00000366957.3:p.Asp457=
ENST00000377732.5:c.1482C>T	ENSP00000366961.1:p.Asp494=
ENST00000377740.4:c.1602C>T	ENSP00000366969.3:p.Asp534=
ENST00000377748.5:c.1602C>T	ENSP00000366977.1:p.Asp534=
ENST00000400913.5:c.1371C>T	ENSP00000383704.1:p.Asp457=
ENST00000400915.7:c.1539C>T	ENSP00000383706.3:p.Asp513=
ENST00000487949.4:n.573C>T
ENST00000489097.5:n.1847C>T
ENST00000535355.5:c.1578C>T	ENSP00000441445.1:p.Asp526=
ENST00000537245.5:c.1608C>T	ENSP00000439625.1:p.Asp536=
NM_001042663.1:c.1539C>T	NP_001036128.1:p.Asp513=
NM_001042664.1:c.1371C>T	NP_001036129.1:p.Asp457=
NM_001042665.1:c.1371C>T	NP_001036130.1:p.Asp457=
NM_001265592.1:c.1608C>T	NP_001252521.1:p.Asp536=
NM_001265593.1:c.1578C>T	NP_001252522.1:p.Asp526=
NM_001265594.1:c.1371C>T	NP_001252523.1:p.Asp457=
NM_020631.4:c.1371C>T	NP_065682.2:p.Asp457=
NM_198681.3:c.1602C>T	NP_941374.2:p.Asp534=
NM_001042663.2:c.1539C>T	NP_001036128.1:p.Asp513=
NM_001265594.2:c.1371C>T	NP_001252523.1:p.Asp457=
NM_020631.5:c.1371C>T	NP_065682.2:p.Asp457=
NM_001042663.3:c.1482C>T	NP_001036128.2:p.Asp494=
NM_001265592.2:c.1482C>T	NP_001252521.2:p.Asp494=
NM_020631.6:c.1371C>T MANE Select	NP_065682.2:p.Asp457=
NM_198681.4:c.1371C>T	NP_941374.3:p.Asp457=