Canonical Allele Identifier: CA338117930

Gene: PLEKHG5

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6469049G>A , CM000663.2:g.6469049G>A	GRCh38
NC_000001.10:g.6529109G>A , CM000663.1:g.6529109G>A	GRCh37
NC_000001.9:g.6451696G>A	NCBI36
NG_007978.1:g.55961C>T , LRG_262:g.55961C>T
NG_029910.1:g.2147C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_020631.6:c.2242C>T MANE Select	NP_065682.2:p.Gln748Ter
ENST00000377728.8:c.2242C>T MANE Select	ENSP00000366957.3:p.Gln748Ter
NM_001042663.1:c.2410C>T	NP_001036128.1:p.Gln804Ter
NM_001042663.2:c.2410C>T	NP_001036128.1:p.Gln804Ter
NM_001042663.3:c.2353C>T	NP_001036128.2:p.Gln785Ter
NM_001042664.1:c.2242C>T	NP_001036129.1:p.Gln748Ter
NM_001042665.1:c.2242C>T	NP_001036130.1:p.Gln748Ter
NM_001265592.1:c.2479C>T	NP_001252521.1:p.Gln827Ter
NM_001265592.2:c.2353C>T	NP_001252521.2:p.Gln785Ter
NM_001265593.1:c.2449C>T	NP_001252522.1:p.Gln817Ter
NM_001265594.1:c.2242C>T	NP_001252523.1:p.Gln748Ter
NM_001265594.2:c.2242C>T	NP_001252523.1:p.Gln748Ter
NM_020631.4:c.2242C>T	NP_065682.2:p.Gln748Ter
NM_020631.5:c.2242C>T	NP_065682.2:p.Gln748Ter
NM_198681.3:c.2473C>T	NP_941374.2:p.Gln825Ter
NM_198681.4:c.2242C>T	NP_941374.3:p.Gln748Ter
ENST00000340850.10:c.2242C>T	ENSP00000344570.5:p.Gln748Ter
ENST00000340850.9:c.2242C>T	ENSP00000344570.5:p.Gln748Ter
ENST00000377725.5:c.2242C>T	ENSP00000366954.1:p.Gln748Ter
ENST00000377728.7:c.2242C>T	ENSP00000366957.3:p.Gln748Ter
ENST00000377732.5:c.2353C>T	ENSP00000366961.1:p.Gln785Ter
ENST00000377740.4:c.2473C>T	ENSP00000366969.3:p.Gln825Ter
ENST00000377740.5:c.2242C>T	ENSP00000366969.4:p.Gln748Ter
ENST00000377748.5:c.2473C>T	ENSP00000366977.1:p.Gln825Ter
ENST00000377748.6:c.2416C>T	ENSP00000366977.2:p.Gln806Ter
ENST00000400913.5:c.2242C>T	ENSP00000383704.1:p.Gln748Ter
ENST00000400913.6:c.2242C>T	ENSP00000383704.1:p.Gln748Ter
ENST00000400915.7:c.2410C>T	ENSP00000383706.3:p.Gln804Ter
ENST00000400915.8:c.2353C>T	ENSP00000383706.4:p.Gln785Ter
ENST00000487949.4:n.1444C>T
ENST00000489097.5:n.2718C>T
ENST00000489097.6:n.2718C>T
ENST00000535355.5:c.2449C>T	ENSP00000441445.1:p.Gln817Ter
ENST00000535355.6:c.2449C>T	ENSP00000441445.1:p.Gln817Ter
ENST00000537245.5:c.2479C>T	ENSP00000439625.1:p.Gln827Ter
ENST00000537245.6:c.2353C>T	ENSP00000439625.2:p.Gln785Ter
ENST00000673471.2:c.2539C>T	ENSP00000500749.1:p.Gln847Ter
ENST00000674790.1:c.*2454C>T	ENSP00000502815.1:n.*2454C>T
ENST00000675123.1:c.2242C>T	ENSP00000502132.1:p.Gln748Ter
ENST00000675139.1:n.313C>T
ENST00000675548.1:c.*2070C>T	ENSP00000502684.1:n.*2070C>T
ENST00000675694.1:c.2242C>T	ENSP00000501925.1:p.Gln748Ter
ENST00000675976.1:c.115C>T	ENSP00000501611.1:p.Gln39Ter