Canonical Allele Identifier: CA338142222

Gene: PLEKHG5

Linked Data

• MyVariant Identifiers: chr1:g.6537648C>A (hg19) ; chr1:g.6477588C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6477588C>A , CM000663.2:g.6477588C>A	GRCh38
NC_000001.10:g.6537648C>A , CM000663.1:g.6537648C>A	GRCh37
NC_000001.9:g.6460235C>A	NCBI36
NG_007978.1:g.47422G>T , LRG_262:g.47422G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340850.10:c.-17G>T	ENSP00000344570.5:n.-17G>T
ENST00000377728.8:c.-17G>T MANE Select	ENSP00000366957.3:n.-17G>T
ENST00000377740.5:c.-17G>T	ENSP00000366969.4:n.-17G>T
ENST00000377748.6:c.95G>T	ENSP00000366977.2:p.Ser32Ile
ENST00000400913.6:c.-17G>T	ENSP00000383704.1:n.-17G>T
ENST00000400915.8:c.95G>T	ENSP00000383706.4:p.Ser32Ile
ENST00000489097.6:n.1G>T
ENST00000535355.6:c.191G>T	ENSP00000441445.1:p.Ser64Ile
ENST00000537245.6:c.95G>T	ENSP00000439625.2:p.Ser32Ile
ENST00000673471.2:c.281G>T	ENSP00000500749.1:p.Ser94Ile
ENST00000674790.1:c.*196G>T	ENSP00000502815.1:n.*196G>T
ENST00000674803.1:n.214G>T
ENST00000675093.1:c.-17G>T	ENSP00000502687.1:n.-17G>T
ENST00000675123.1:c.-17G>T	ENSP00000502132.1:n.-17G>T
ENST00000675548.1:c.169G>T	ENSP00000502684.1:p.Ala57Ser
ENST00000675655.1:n.190G>T
ENST00000675694.1:c.-17G>T	ENSP00000501925.1:n.-17G>T
ENST00000676287.1:c.-17G>T	ENSP00000502810.1:n.-17G>T
ENST00000676362.1:n.207G>T
ENST00000340850.9:c.-17G>T	ENSP00000344570.5:n.-17G>T
ENST00000377725.5:c.-17G>T	ENSP00000366954.1:n.-17G>T
ENST00000377728.7:c.-17G>T	ENSP00000366957.3:n.-17G>T
ENST00000377732.5:c.95G>T	ENSP00000366961.1:p.Ser32Ile
ENST00000377740.4:c.215G>T	ENSP00000366969.3:p.Ser72Ile
ENST00000377748.5:c.215G>T	ENSP00000366977.1:p.Ser72Ile
ENST00000400913.5:c.-17G>T	ENSP00000383704.1:n.-17G>T
ENST00000400915.7:c.152G>T	ENSP00000383706.3:p.Ser51Ile
ENST00000489097.5:n.1G>T
ENST00000535355.5:c.191G>T	ENSP00000441445.1:p.Ser64Ile
ENST00000537245.5:c.221G>T	ENSP00000439625.1:p.Ser74Ile
NM_001042663.1:c.152G>T	NP_001036128.1:p.Ser51Ile
NM_001042664.1:c.-17G>T	NP_001036129.1:n.-17G>T
NM_001042665.1:c.-17G>T	NP_001036130.1:n.-17G>T
NM_001265592.1:c.221G>T	NP_001252521.1:p.Ser74Ile
NM_001265593.1:c.191G>T	NP_001252522.1:p.Ser64Ile
NM_001265594.1:c.-17G>T	NP_001252523.1:n.-17G>T
NM_020631.4:c.-17G>T	NP_065682.2:n.-17G>T
NM_198681.3:c.215G>T	NP_941374.2:p.Ser72Ile
NM_001042663.2:c.152G>T	NP_001036128.1:p.Ser51Ile
NM_001265594.2:c.-17G>T	NP_001252523.1:n.-17G>T
NM_020631.5:c.-17G>T	NP_065682.2:n.-17G>T
NM_001042663.3:c.95G>T	NP_001036128.2:p.Ser32Ile
NM_001265592.2:c.95G>T	NP_001252521.2:p.Ser32Ile
NM_020631.6:c.-17G>T MANE Select	NP_065682.2:n.-17G>T
NM_198681.4:c.-17G>T	NP_941374.3:n.-17G>T