Canonical Allele Identifier: CA415834142

Gene: PLEKHG5

Linked Data

• gnomAD v4: 1-6474524-C-T
• MyVariant Identifiers: chr1:g.6534584C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6474524C>T , CM000663.2:g.6474524C>T	GRCh38
NC_000001.10:g.6534584C>T , CM000663.1:g.6534584C>T	GRCh37
NC_000001.9:g.6457171C>T	NCBI36
NG_007978.1:g.50486G>A , LRG_262:g.50486G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340850.10:c.366G>A	ENSP00000344570.5:p.Leu122=
ENST00000377728.8:c.366G>A MANE Select	ENSP00000366957.3:p.Leu122=
ENST00000377740.5:c.366G>A	ENSP00000366969.4:p.Leu122=
ENST00000377748.6:c.540G>A	ENSP00000366977.2:p.Leu180=
ENST00000400913.6:c.366G>A	ENSP00000383704.1:p.Leu122=
ENST00000400915.8:c.477G>A	ENSP00000383706.4:p.Leu159=
ENST00000489097.6:n.842G>A
ENST00000535355.6:c.573G>A	ENSP00000441445.1:p.Leu191=
ENST00000537245.6:c.477G>A	ENSP00000439625.2:p.Leu159=
ENST00000673471.2:c.663G>A	ENSP00000500749.1:p.Leu221=
ENST00000674790.1:c.*578G>A	ENSP00000502815.1:n.*578G>A
ENST00000675123.1:c.366G>A	ENSP00000502132.1:p.Leu122=
ENST00000675548.1:c.*194G>A	ENSP00000502684.1:n.*194G>A
ENST00000675694.1:c.366G>A	ENSP00000501925.1:p.Leu122=
ENST00000676255.1:c.328G>A	ENSP00000502459.1:n.328G>A
ENST00000340850.9:c.366G>A	ENSP00000344570.5:p.Leu122=
ENST00000377725.5:c.366G>A	ENSP00000366954.1:p.Leu122=
ENST00000377728.7:c.366G>A	ENSP00000366957.3:p.Leu122=
ENST00000377732.5:c.477G>A	ENSP00000366961.1:p.Leu159=
ENST00000377740.4:c.597G>A	ENSP00000366969.3:p.Leu199=
ENST00000377748.5:c.597G>A	ENSP00000366977.1:p.Leu199=
ENST00000400913.5:c.366G>A	ENSP00000383704.1:p.Leu122=
ENST00000400915.7:c.534G>A	ENSP00000383706.3:p.Leu178=
ENST00000489097.5:n.842G>A
ENST00000535355.5:c.573G>A	ENSP00000441445.1:p.Leu191=
ENST00000537245.5:c.603G>A	ENSP00000439625.1:p.Leu201=
NM_001042663.1:c.534G>A	NP_001036128.1:p.Leu178=
NM_001042664.1:c.366G>A	NP_001036129.1:p.Leu122=
NM_001042665.1:c.366G>A	NP_001036130.1:p.Leu122=
NM_001265592.1:c.603G>A	NP_001252521.1:p.Leu201=
NM_001265593.1:c.573G>A	NP_001252522.1:p.Leu191=
NM_001265594.1:c.366G>A	NP_001252523.1:p.Leu122=
NM_020631.4:c.366G>A	NP_065682.2:p.Leu122=
NM_198681.3:c.597G>A	NP_941374.2:p.Leu199=
NM_001042663.2:c.534G>A	NP_001036128.1:p.Leu178=
NM_001265594.2:c.366G>A	NP_001252523.1:p.Leu122=
NM_020631.5:c.366G>A	NP_065682.2:p.Leu122=
NM_001042663.3:c.477G>A	NP_001036128.2:p.Leu159=
NM_001265592.2:c.477G>A	NP_001252521.2:p.Leu159=
NM_020631.6:c.366G>A MANE Select	NP_065682.2:p.Leu122=
NM_198681.4:c.366G>A	NP_941374.3:p.Leu122=