Canonical Allele Identifier: CA338114983

Gene: PLEKHG5

Linked Data

• MyVariant Identifiers: chr1:g.6528138G>C (hg19) ; chr1:g.6468078G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6468078G>C , CM000663.2:g.6468078G>C	GRCh38
NC_000001.10:g.6528138G>C , CM000663.1:g.6528138G>C	GRCh37
NC_000001.9:g.6450725G>C	NCBI36
NG_007978.1:g.56932C>G , LRG_262:g.56932C>G
NG_029910.1:g.3118C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000340850.10:c.2758C>G	ENSP00000344570.5:p.Pro920Ala
ENST00000377728.8:c.2758C>G MANE Select	ENSP00000366957.3:p.Pro920Ala
ENST00000377740.5:c.2758C>G	ENSP00000366969.4:p.Pro920Ala
ENST00000377748.6:c.2932C>G	ENSP00000366977.2:p.Pro978Ala
ENST00000400913.6:c.2758C>G	ENSP00000383704.1:p.Pro920Ala
ENST00000400915.8:c.2869C>G	ENSP00000383706.4:p.Pro957Ala
ENST00000489097.6:n.3234C>G
ENST00000535355.6:c.2965C>G	ENSP00000441445.1:p.Pro989Ala
ENST00000537245.6:c.2869C>G	ENSP00000439625.2:p.Pro957Ala
ENST00000673471.2:c.3055C>G	ENSP00000500749.1:p.Pro1019Ala
ENST00000674790.1:c.*2970C>G	ENSP00000502815.1:n.*2970C>G
ENST00000675123.1:c.2250-185C>G	ENSP00000502132.1:n.2250-185C>G
ENST00000675548.1:c.*2586C>G	ENSP00000502684.1:n.*2586C>G
ENST00000675694.1:c.2758C>G	ENSP00000501925.1:p.Pro920Ala
ENST00000675976.1:c.631C>G	ENSP00000501611.1:p.Pro211Ala
ENST00000340850.9:c.2758C>G	ENSP00000344570.5:p.Pro920Ala
ENST00000377725.5:c.2737+21C>G	ENSP00000366954.1:n.2737+21C>G
ENST00000377728.7:c.2758C>G	ENSP00000366957.3:p.Pro920Ala
ENST00000377732.5:c.2869C>G	ENSP00000366961.1:p.Pro957Ala
ENST00000377740.4:c.2481-185C>G	ENSP00000366969.3:n.2481-185C>G
ENST00000377748.5:c.2989C>G	ENSP00000366977.1:p.Pro997Ala
ENST00000400913.5:c.2758C>G	ENSP00000383704.1:p.Pro920Ala
ENST00000400915.7:c.2926C>G	ENSP00000383706.3:p.Pro976Ala
ENST00000487949.4:n.1960C>G
ENST00000489097.5:n.3234C>G
ENST00000535355.5:c.2965C>G	ENSP00000441445.1:p.Pro989Ala
ENST00000537245.5:c.2995C>G	ENSP00000439625.1:p.Pro999Ala
NM_001042663.1:c.2926C>G	NP_001036128.1:p.Pro976Ala
NM_001042664.1:c.2758C>G	NP_001036129.1:p.Pro920Ala
NM_001042665.1:c.2758C>G	NP_001036130.1:p.Pro920Ala
NM_001265592.1:c.2995C>G	NP_001252521.1:p.Pro999Ala
NM_001265593.1:c.2965C>G	NP_001252522.1:p.Pro989Ala
NM_001265594.1:c.2737+21C>G	NP_001252523.1:n.2737+21C>G
NM_020631.4:c.2758C>G	NP_065682.2:p.Pro920Ala
NM_198681.3:c.2989C>G	NP_941374.2:p.Pro997Ala
NM_001042663.2:c.2926C>G	NP_001036128.1:p.Pro976Ala
NM_001265594.2:c.2737+21C>G	NP_001252523.1:n.2737+21C>G
NM_020631.5:c.2758C>G	NP_065682.2:p.Pro920Ala
NM_001042663.3:c.2869C>G	NP_001036128.2:p.Pro957Ala
NM_001265592.2:c.2869C>G	NP_001252521.2:p.Pro957Ala
NM_020631.6:c.2758C>G MANE Select	NP_065682.2:p.Pro920Ala
NM_198681.4:c.2758C>G	NP_941374.3:p.Pro920Ala