Canonical Allele Identifier: CA338142309

Gene: PLEKHG5

Linked Data

• gnomAD v4: 1-6477598-C-T
• MyVariant Identifiers: chr1:g.6537658C>T (hg19) ; chr1:g.6477598C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6477598C>T , CM000663.2:g.6477598C>T	GRCh38
NC_000001.10:g.6537658C>T , CM000663.1:g.6537658C>T	GRCh37
NC_000001.9:g.6460245C>T	NCBI36
NG_007978.1:g.47412G>A , LRG_262:g.47412G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340850.10:c.-27G>A	ENSP00000344570.5:n.-27G>A
ENST00000377728.8:c.-27G>A MANE Select	ENSP00000366957.3:n.-27G>A
ENST00000377740.5:c.-27G>A	ENSP00000366969.4:n.-27G>A
ENST00000377748.6:c.85G>A	ENSP00000366977.2:p.Ala29Thr
ENST00000400913.6:c.-27G>A	ENSP00000383704.1:n.-27G>A
ENST00000400915.8:c.85G>A	ENSP00000383706.4:p.Ala29Thr
ENST00000535355.6:c.181G>A	ENSP00000441445.1:p.Ala61Thr
ENST00000537245.6:c.85G>A	ENSP00000439625.2:p.Ala29Thr
ENST00000673471.2:c.271G>A	ENSP00000500749.1:p.Ala91Thr
ENST00000674790.1:c.*186G>A	ENSP00000502815.1:n.*186G>A
ENST00000674803.1:n.204G>A
ENST00000675093.1:c.-27G>A	ENSP00000502687.1:n.-27G>A
ENST00000675123.1:c.-27G>A	ENSP00000502132.1:n.-27G>A
ENST00000675548.1:c.159G>A	ENSP00000502684.1:p.Arg53=
ENST00000675655.1:n.180G>A
ENST00000675694.1:c.-27G>A	ENSP00000501925.1:n.-27G>A
ENST00000676287.1:c.-27G>A	ENSP00000502810.1:n.-27G>A
ENST00000676362.1:n.197G>A
ENST00000340850.9:c.-27G>A	ENSP00000344570.5:n.-27G>A
ENST00000377725.5:c.-27G>A	ENSP00000366954.1:n.-27G>A
ENST00000377728.7:c.-27G>A	ENSP00000366957.3:n.-27G>A
ENST00000377732.5:c.85G>A	ENSP00000366961.1:p.Ala29Thr
ENST00000377740.4:c.205G>A	ENSP00000366969.3:p.Ala69Thr
ENST00000377748.5:c.205G>A	ENSP00000366977.1:p.Ala69Thr
ENST00000400913.5:c.-27G>A	ENSP00000383704.1:n.-27G>A
ENST00000400915.7:c.142G>A	ENSP00000383706.3:p.Ala48Thr
ENST00000535355.5:c.181G>A	ENSP00000441445.1:p.Ala61Thr
ENST00000537245.5:c.211G>A	ENSP00000439625.1:p.Ala71Thr
NM_001042663.1:c.142G>A	NP_001036128.1:p.Ala48Thr
NM_001042664.1:c.-27G>A	NP_001036129.1:n.-27G>A
NM_001042665.1:c.-27G>A	NP_001036130.1:n.-27G>A
NM_001265592.1:c.211G>A	NP_001252521.1:p.Ala71Thr
NM_001265593.1:c.181G>A	NP_001252522.1:p.Ala61Thr
NM_001265594.1:c.-27G>A	NP_001252523.1:n.-27G>A
NM_020631.4:c.-27G>A	NP_065682.2:n.-27G>A
NM_198681.3:c.205G>A	NP_941374.2:p.Ala69Thr
NM_001042663.2:c.142G>A	NP_001036128.1:p.Ala48Thr
NM_001265594.2:c.-27G>A	NP_001252523.1:n.-27G>A
NM_020631.5:c.-27G>A	NP_065682.2:n.-27G>A
NM_001042663.3:c.85G>A	NP_001036128.2:p.Ala29Thr
NM_001265592.2:c.85G>A	NP_001252521.2:p.Ala29Thr
NM_020631.6:c.-27G>A MANE Select	NP_065682.2:n.-27G>A
NM_198681.4:c.-27G>A	NP_941374.3:n.-27G>A