Canonical Allele Identifier: CA338115424

Gene: PLEKHG5

Linked Data

• dbSNP Id: rs1265223816
• gnomAD v2: 1-6528231-C-T
• MyVariant Identifiers: chr1:g.6528231C>T (hg19) ; chr1:g.6468171C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6468171C>T , CM000663.2:g.6468171C>T	GRCh38
NC_000001.10:g.6528231C>T , CM000663.1:g.6528231C>T	GRCh37
NC_000001.9:g.6450818C>T	NCBI36
NG_007978.1:g.56839G>A , LRG_262:g.56839G>A
NG_029910.1:g.3025G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340850.10:c.2665G>A	ENSP00000344570.5:p.Ala889Thr
ENST00000377728.8:c.2665G>A MANE Select	ENSP00000366957.3:p.Ala889Thr
ENST00000377740.5:c.2665G>A	ENSP00000366969.4:p.Ala889Thr
ENST00000377748.6:c.2839G>A	ENSP00000366977.2:p.Ala947Thr
ENST00000400913.6:c.2665G>A	ENSP00000383704.1:p.Ala889Thr
ENST00000400915.8:c.2776G>A	ENSP00000383706.4:p.Ala926Thr
ENST00000489097.6:n.3141G>A
ENST00000535355.6:c.2872G>A	ENSP00000441445.1:p.Ala958Thr
ENST00000537245.6:c.2776G>A	ENSP00000439625.2:p.Ala926Thr
ENST00000673471.2:c.2962G>A	ENSP00000500749.1:p.Ala988Thr
ENST00000674790.1:c.*2877G>A	ENSP00000502815.1:n.*2877G>A
ENST00000675123.1:c.2250-278G>A	ENSP00000502132.1:n.2250-278G>A
ENST00000675548.1:c.*2493G>A	ENSP00000502684.1:n.*2493G>A
ENST00000675694.1:c.2665G>A	ENSP00000501925.1:p.Ala889Thr
ENST00000675976.1:c.538G>A	ENSP00000501611.1:p.Ala180Thr
ENST00000340850.9:c.2665G>A	ENSP00000344570.5:p.Ala889Thr
ENST00000377725.5:c.2665G>A	ENSP00000366954.1:p.Ala889Thr
ENST00000377728.7:c.2665G>A	ENSP00000366957.3:p.Ala889Thr
ENST00000377732.5:c.2776G>A	ENSP00000366961.1:p.Ala926Thr
ENST00000377740.4:c.2481-278G>A	ENSP00000366969.3:n.2481-278G>A
ENST00000377748.5:c.2896G>A	ENSP00000366977.1:p.Ala966Thr
ENST00000400913.5:c.2665G>A	ENSP00000383704.1:p.Ala889Thr
ENST00000400915.7:c.2833G>A	ENSP00000383706.3:p.Ala945Thr
ENST00000487949.4:n.1867G>A
ENST00000489097.5:n.3141G>A
ENST00000535355.5:c.2872G>A	ENSP00000441445.1:p.Ala958Thr
ENST00000537245.5:c.2902G>A	ENSP00000439625.1:p.Ala968Thr
NM_001042663.1:c.2833G>A	NP_001036128.1:p.Ala945Thr
NM_001042664.1:c.2665G>A	NP_001036129.1:p.Ala889Thr
NM_001042665.1:c.2665G>A	NP_001036130.1:p.Ala889Thr
NM_001265592.1:c.2902G>A	NP_001252521.1:p.Ala968Thr
NM_001265593.1:c.2872G>A	NP_001252522.1:p.Ala958Thr
NM_001265594.1:c.2665G>A	NP_001252523.1:p.Ala889Thr
NM_020631.4:c.2665G>A	NP_065682.2:p.Ala889Thr
NM_198681.3:c.2896G>A	NP_941374.2:p.Ala966Thr
NM_001042663.2:c.2833G>A	NP_001036128.1:p.Ala945Thr
NM_001265594.2:c.2665G>A	NP_001252523.1:p.Ala889Thr
NM_020631.5:c.2665G>A	NP_065682.2:p.Ala889Thr
NM_001042663.3:c.2776G>A	NP_001036128.2:p.Ala926Thr
NM_001265592.2:c.2776G>A	NP_001252521.2:p.Ala926Thr
NM_020631.6:c.2665G>A MANE Select	NP_065682.2:p.Ala889Thr
NM_198681.4:c.2665G>A	NP_941374.3:p.Ala889Thr