Canonical Allele Identifier: CA17234741

Gene: PLEKHG5

Linked Data

• dbSNP Id: rs373793845
• gnomAD v4: 1-6469091-A-G
• MyVariant Identifiers: chr1:g.6529151A>G (hg19) ; chr1:g.6469091A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6469091A>G , CM000663.2:g.6469091A>G	GRCh38
NC_000001.10:g.6529151A>G , CM000663.1:g.6529151A>G	GRCh37
NC_000001.9:g.6451738A>G	NCBI36
NG_007978.1:g.55919T>C , LRG_262:g.55919T>C
NG_029910.1:g.2105T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340850.10:c.2200T>C	ENSP00000344570.5:p.Ser734Pro
ENST00000377728.8:c.2200T>C MANE Select	ENSP00000366957.3:p.Ser734Pro
ENST00000377740.5:c.2200T>C	ENSP00000366969.4:p.Ser734Pro
ENST00000377748.6:c.2374T>C	ENSP00000366977.2:p.Ser792Pro
ENST00000400913.6:c.2200T>C	ENSP00000383704.1:p.Ser734Pro
ENST00000400915.8:c.2311T>C	ENSP00000383706.4:p.Ser771Pro
ENST00000489097.6:n.2676T>C
ENST00000535355.6:c.2407T>C	ENSP00000441445.1:p.Ser803Pro
ENST00000537245.6:c.2311T>C	ENSP00000439625.2:p.Ser771Pro
ENST00000673471.2:c.2497T>C	ENSP00000500749.1:p.Ser833Pro
ENST00000674790.1:c.*2412T>C	ENSP00000502815.1:n.*2412T>C
ENST00000675123.1:c.2200T>C	ENSP00000502132.1:p.Ser734Pro
ENST00000675139.1:n.271T>C
ENST00000675548.1:c.*2028T>C	ENSP00000502684.1:n.*2028T>C
ENST00000675694.1:c.2200T>C	ENSP00000501925.1:p.Ser734Pro
ENST00000675976.1:c.73T>C	ENSP00000501611.1:p.Ser25Pro
ENST00000340850.9:c.2200T>C	ENSP00000344570.5:p.Ser734Pro
ENST00000377725.5:c.2200T>C	ENSP00000366954.1:p.Ser734Pro
ENST00000377728.7:c.2200T>C	ENSP00000366957.3:p.Ser734Pro
ENST00000377732.5:c.2311T>C	ENSP00000366961.1:p.Ser771Pro
ENST00000377740.4:c.2431T>C	ENSP00000366969.3:p.Ser811Pro
ENST00000377748.5:c.2431T>C	ENSP00000366977.1:p.Ser811Pro
ENST00000400913.5:c.2200T>C	ENSP00000383704.1:p.Ser734Pro
ENST00000400915.7:c.2368T>C	ENSP00000383706.3:p.Ser790Pro
ENST00000487949.4:n.1402T>C
ENST00000489097.5:n.2676T>C
ENST00000535355.5:c.2407T>C	ENSP00000441445.1:p.Ser803Pro
ENST00000537245.5:c.2437T>C	ENSP00000439625.1:p.Ser813Pro
NM_001042663.1:c.2368T>C	NP_001036128.1:p.Ser790Pro
NM_001042664.1:c.2200T>C	NP_001036129.1:p.Ser734Pro
NM_001042665.1:c.2200T>C	NP_001036130.1:p.Ser734Pro
NM_001265592.1:c.2437T>C	NP_001252521.1:p.Ser813Pro
NM_001265593.1:c.2407T>C	NP_001252522.1:p.Ser803Pro
NM_001265594.1:c.2200T>C	NP_001252523.1:p.Ser734Pro
NM_020631.4:c.2200T>C	NP_065682.2:p.Ser734Pro
NM_198681.3:c.2431T>C	NP_941374.2:p.Ser811Pro
NM_001042663.2:c.2368T>C	NP_001036128.1:p.Ser790Pro
NM_001265594.2:c.2200T>C	NP_001252523.1:p.Ser734Pro
NM_020631.5:c.2200T>C	NP_065682.2:p.Ser734Pro
NM_001042663.3:c.2311T>C	NP_001036128.2:p.Ser771Pro
NM_001265592.2:c.2311T>C	NP_001252521.2:p.Ser771Pro
NM_020631.6:c.2200T>C MANE Select	NP_065682.2:p.Ser734Pro
NM_198681.4:c.2200T>C	NP_941374.3:p.Ser734Pro