Canonical Allele Identifier: CA338138807

Gene: PLEKHG5

Linked Data

• MyVariant Identifiers: chr1:g.6534183T>G (hg19) ; chr1:g.6474123T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6474123T>G , CM000663.2:g.6474123T>G	GRCh38
NC_000001.10:g.6534183T>G , CM000663.1:g.6534183T>G	GRCh37
NC_000001.9:g.6456770T>G	NCBI36
NG_007978.1:g.50887A>C , LRG_262:g.50887A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340850.10:c.481A>C	ENSP00000344570.5:p.Met161Leu
ENST00000377728.8:c.481A>C MANE Select	ENSP00000366957.3:p.Met161Leu
ENST00000377740.5:c.481A>C	ENSP00000366969.4:p.Met161Leu
ENST00000377748.6:c.655A>C	ENSP00000366977.2:p.Met219Leu
ENST00000400913.6:c.481A>C	ENSP00000383704.1:p.Met161Leu
ENST00000400915.8:c.592A>C	ENSP00000383706.4:p.Met198Leu
ENST00000489097.6:n.957A>C
ENST00000535355.6:c.688A>C	ENSP00000441445.1:p.Met230Leu
ENST00000537245.6:c.592A>C	ENSP00000439625.2:p.Met198Leu
ENST00000673471.2:c.778A>C	ENSP00000500749.1:p.Met260Leu
ENST00000674790.1:c.*693A>C	ENSP00000502815.1:n.*693A>C
ENST00000675123.1:c.481A>C	ENSP00000502132.1:p.Met161Leu
ENST00000675548.1:c.*309A>C	ENSP00000502684.1:n.*309A>C
ENST00000675694.1:c.481A>C	ENSP00000501925.1:p.Met161Leu
ENST00000340850.9:c.481A>C	ENSP00000344570.5:p.Met161Leu
ENST00000377725.5:c.481A>C	ENSP00000366954.1:p.Met161Leu
ENST00000377728.7:c.481A>C	ENSP00000366957.3:p.Met161Leu
ENST00000377732.5:c.592A>C	ENSP00000366961.1:p.Met198Leu
ENST00000377740.4:c.712A>C	ENSP00000366969.3:p.Met238Leu
ENST00000377748.5:c.712A>C	ENSP00000366977.1:p.Met238Leu
ENST00000400913.5:c.481A>C	ENSP00000383704.1:p.Met161Leu
ENST00000400915.7:c.649A>C	ENSP00000383706.3:p.Met217Leu
ENST00000489097.5:n.957A>C
ENST00000535355.5:c.688A>C	ENSP00000441445.1:p.Met230Leu
ENST00000537245.5:c.718A>C	ENSP00000439625.1:p.Met240Leu
NM_001042663.1:c.649A>C	NP_001036128.1:p.Met217Leu
NM_001042664.1:c.481A>C	NP_001036129.1:p.Met161Leu
NM_001042665.1:c.481A>C	NP_001036130.1:p.Met161Leu
NM_001265592.1:c.718A>C	NP_001252521.1:p.Met240Leu
NM_001265593.1:c.688A>C	NP_001252522.1:p.Met230Leu
NM_001265594.1:c.481A>C	NP_001252523.1:p.Met161Leu
NM_020631.4:c.481A>C	NP_065682.2:p.Met161Leu
NM_198681.3:c.712A>C	NP_941374.2:p.Met238Leu
NM_001042663.2:c.649A>C	NP_001036128.1:p.Met217Leu
NM_001265594.2:c.481A>C	NP_001252523.1:p.Met161Leu
NM_020631.5:c.481A>C	NP_065682.2:p.Met161Leu
NM_001042663.3:c.592A>C	NP_001036128.2:p.Met198Leu
NM_001265592.2:c.592A>C	NP_001252521.2:p.Met198Leu
NM_020631.6:c.481A>C MANE Select	NP_065682.2:p.Met161Leu
NM_198681.4:c.481A>C	NP_941374.3:p.Met161Leu