Canonical Allele Identifier: CA338142266

Gene: PLEKHG5

Linked Data

• gnomAD v4: 1-6477592-C-A
• MyVariant Identifiers: chr1:g.6537652C>A (hg19) ; chr1:g.6477592C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6477592C>A , CM000663.2:g.6477592C>A	GRCh38
NC_000001.10:g.6537652C>A , CM000663.1:g.6537652C>A	GRCh37
NC_000001.9:g.6460239C>A	NCBI36
NG_007978.1:g.47418G>T , LRG_262:g.47418G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340850.10:c.-21G>T	ENSP00000344570.5:n.-21G>T
ENST00000377728.8:c.-21G>T MANE Select	ENSP00000366957.3:n.-21G>T
ENST00000377740.5:c.-21G>T	ENSP00000366969.4:n.-21G>T
ENST00000377748.6:c.91G>T	ENSP00000366977.2:p.Asp31Tyr
ENST00000400913.6:c.-21G>T	ENSP00000383704.1:n.-21G>T
ENST00000400915.8:c.91G>T	ENSP00000383706.4:p.Asp31Tyr
ENST00000535355.6:c.187G>T	ENSP00000441445.1:p.Asp63Tyr
ENST00000537245.6:c.91G>T	ENSP00000439625.2:p.Asp31Tyr
ENST00000673471.2:c.277G>T	ENSP00000500749.1:p.Asp93Tyr
ENST00000674790.1:c.*192G>T	ENSP00000502815.1:n.*192G>T
ENST00000674803.1:n.210G>T
ENST00000675093.1:c.-21G>T	ENSP00000502687.1:n.-21G>T
ENST00000675123.1:c.-21G>T	ENSP00000502132.1:n.-21G>T
ENST00000675548.1:c.165G>T	ENSP00000502684.1:p.Val55=
ENST00000675655.1:n.186G>T
ENST00000675694.1:c.-21G>T	ENSP00000501925.1:n.-21G>T
ENST00000676287.1:c.-21G>T	ENSP00000502810.1:n.-21G>T
ENST00000676362.1:n.203G>T
ENST00000340850.9:c.-21G>T	ENSP00000344570.5:n.-21G>T
ENST00000377725.5:c.-21G>T	ENSP00000366954.1:n.-21G>T
ENST00000377728.7:c.-21G>T	ENSP00000366957.3:n.-21G>T
ENST00000377732.5:c.91G>T	ENSP00000366961.1:p.Asp31Tyr
ENST00000377740.4:c.211G>T	ENSP00000366969.3:p.Asp71Tyr
ENST00000377748.5:c.211G>T	ENSP00000366977.1:p.Asp71Tyr
ENST00000400913.5:c.-21G>T	ENSP00000383704.1:n.-21G>T
ENST00000400915.7:c.148G>T	ENSP00000383706.3:p.Asp50Tyr
ENST00000535355.5:c.187G>T	ENSP00000441445.1:p.Asp63Tyr
ENST00000537245.5:c.217G>T	ENSP00000439625.1:p.Asp73Tyr
NM_001042663.1:c.148G>T	NP_001036128.1:p.Asp50Tyr
NM_001042664.1:c.-21G>T	NP_001036129.1:n.-21G>T
NM_001042665.1:c.-21G>T	NP_001036130.1:n.-21G>T
NM_001265592.1:c.217G>T	NP_001252521.1:p.Asp73Tyr
NM_001265593.1:c.187G>T	NP_001252522.1:p.Asp63Tyr
NM_001265594.1:c.-21G>T	NP_001252523.1:n.-21G>T
NM_020631.4:c.-21G>T	NP_065682.2:n.-21G>T
NM_198681.3:c.211G>T	NP_941374.2:p.Asp71Tyr
NM_001042663.2:c.148G>T	NP_001036128.1:p.Asp50Tyr
NM_001265594.2:c.-21G>T	NP_001252523.1:n.-21G>T
NM_020631.5:c.-21G>T	NP_065682.2:n.-21G>T
NM_001042663.3:c.91G>T	NP_001036128.2:p.Asp31Tyr
NM_001265592.2:c.91G>T	NP_001252521.2:p.Asp31Tyr
NM_020631.6:c.-21G>T MANE Select	NP_065682.2:n.-21G>T
NM_198681.4:c.-21G>T	NP_941374.3:n.-21G>T