Canonical Allele Identifier: CA338117807

Gene: PLEKHG5

Linked Data

• MyVariant Identifiers: chr1:g.6528603C>A (hg19) ; chr1:g.6468543C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6468543C>A , CM000663.2:g.6468543C>A	GRCh38
NC_000001.10:g.6528603C>A , CM000663.1:g.6528603C>A	GRCh37
NC_000001.9:g.6451190C>A	NCBI36
NG_007978.1:g.56467G>T , LRG_262:g.56467G>T
NG_029910.1:g.2653G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340850.10:c.2293G>T	ENSP00000344570.5:p.Glu765Ter
ENST00000377728.8:c.2293G>T MANE Select	ENSP00000366957.3:p.Glu765Ter
ENST00000377740.5:c.2293G>T	ENSP00000366969.4:p.Glu765Ter
ENST00000377748.6:c.2467G>T	ENSP00000366977.2:p.Glu823Ter
ENST00000400913.6:c.2293G>T	ENSP00000383704.1:p.Glu765Ter
ENST00000400915.8:c.2404G>T	ENSP00000383706.4:p.Glu802Ter
ENST00000489097.6:n.2769G>T
ENST00000535355.6:c.2500G>T	ENSP00000441445.1:p.Glu834Ter
ENST00000537245.6:c.2404G>T	ENSP00000439625.2:p.Glu802Ter
ENST00000673471.2:c.2590G>T	ENSP00000500749.1:p.Glu864Ter
ENST00000674790.1:c.*2505G>T	ENSP00000502815.1:n.*2505G>T
ENST00000675123.1:c.2249+499G>T	ENSP00000502132.1:n.2249+499G>T
ENST00000675548.1:c.*2121G>T	ENSP00000502684.1:n.*2121G>T
ENST00000675694.1:c.2293G>T	ENSP00000501925.1:p.Glu765Ter
ENST00000675976.1:c.166G>T	ENSP00000501611.1:p.Glu56Ter
ENST00000340850.9:c.2293G>T	ENSP00000344570.5:p.Glu765Ter
ENST00000377725.5:c.2293G>T	ENSP00000366954.1:p.Glu765Ter
ENST00000377728.7:c.2293G>T	ENSP00000366957.3:p.Glu765Ter
ENST00000377732.5:c.2404G>T	ENSP00000366961.1:p.Glu802Ter
ENST00000377740.4:c.2480+499G>T	ENSP00000366969.3:n.2480+499G>T
ENST00000377748.5:c.2524G>T	ENSP00000366977.1:p.Glu842Ter
ENST00000400913.5:c.2293G>T	ENSP00000383704.1:p.Glu765Ter
ENST00000400915.7:c.2461G>T	ENSP00000383706.3:p.Glu821Ter
ENST00000487949.4:n.1495G>T
ENST00000489097.5:n.2769G>T
ENST00000535355.5:c.2500G>T	ENSP00000441445.1:p.Glu834Ter
ENST00000537245.5:c.2530G>T	ENSP00000439625.1:p.Glu844Ter
NM_001042663.1:c.2461G>T	NP_001036128.1:p.Glu821Ter
NM_001042664.1:c.2293G>T	NP_001036129.1:p.Glu765Ter
NM_001042665.1:c.2293G>T	NP_001036130.1:p.Glu765Ter
NM_001265592.1:c.2530G>T	NP_001252521.1:p.Glu844Ter
NM_001265593.1:c.2500G>T	NP_001252522.1:p.Glu834Ter
NM_001265594.1:c.2293G>T	NP_001252523.1:p.Glu765Ter
NM_020631.4:c.2293G>T	NP_065682.2:p.Glu765Ter
NM_198681.3:c.2524G>T	NP_941374.2:p.Glu842Ter
NM_001042663.2:c.2461G>T	NP_001036128.1:p.Glu821Ter
NM_001265594.2:c.2293G>T	NP_001252523.1:p.Glu765Ter
NM_020631.5:c.2293G>T	NP_065682.2:p.Glu765Ter
NM_001042663.3:c.2404G>T	NP_001036128.2:p.Glu802Ter
NM_001265592.2:c.2404G>T	NP_001252521.2:p.Glu802Ter
NM_020631.6:c.2293G>T MANE Select	NP_065682.2:p.Glu765Ter
NM_198681.4:c.2293G>T	NP_941374.3:p.Glu765Ter