Canonical Allele Identifier: CA17235100

Gene: PLEKHG5

Linked Data

• dbSNP Id: rs865965666
• gnomAD v3: 1-6469267-G-A
• gnomAD v4: 1-6469267-G-A
• MyVariant Identifiers: chr1:g.6529327G>A (hg19) ; chr1:g.6469267G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6469267G>A , CM000663.2:g.6469267G>A	GRCh38
NC_000001.10:g.6529327G>A , CM000663.1:g.6529327G>A	GRCh37
NC_000001.9:g.6451914G>A	NCBI36
NG_007978.1:g.55743C>T , LRG_262:g.55743C>T
NG_029910.1:g.1929C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000340850.10:c.2050-26C>T	ENSP00000344570.5:n.2050-26C>T
ENST00000377728.8:c.2050-26C>T MANE Select	ENSP00000366957.3:n.2050-26C>T
ENST00000377740.5:c.2050-26C>T	ENSP00000366969.4:n.2050-26C>T
ENST00000377748.6:c.2224-26C>T	ENSP00000366977.2:n.2224-26C>T
ENST00000400913.6:c.2050-26C>T	ENSP00000383704.1:n.2050-26C>T
ENST00000400915.8:c.2161-26C>T	ENSP00000383706.4:n.2161-26C>T
ENST00000489097.6:n.2526-26C>T
ENST00000535355.6:c.2257-26C>T	ENSP00000441445.1:n.2257-26C>T
ENST00000537245.6:c.2161-26C>T	ENSP00000439625.2:n.2161-26C>T
ENST00000673471.2:c.2347-26C>T	ENSP00000500749.1:n.2347-26C>T
ENST00000674790.1:c.*2262-26C>T	ENSP00000502815.1:n.*2262-26C>T
ENST00000675123.1:c.2050-26C>T	ENSP00000502132.1:n.2050-26C>T
ENST00000675139.1:n.121-26C>T
ENST00000675548.1:c.*1878-26C>T	ENSP00000502684.1:n.*1878-26C>T
ENST00000675694.1:c.2050-26C>T	ENSP00000501925.1:n.2050-26C>T
ENST00000676401.1:n.597-26C>T
ENST00000340850.9:c.2050-26C>T	ENSP00000344570.5:n.2050-26C>T
ENST00000377725.5:c.2050-26C>T	ENSP00000366954.1:n.2050-26C>T
ENST00000377728.7:c.2050-26C>T	ENSP00000366957.3:n.2050-26C>T
ENST00000377732.5:c.2161-26C>T	ENSP00000366961.1:n.2161-26C>T
ENST00000377740.4:c.2281-26C>T	ENSP00000366969.3:n.2281-26C>T
ENST00000377748.5:c.2281-26C>T	ENSP00000366977.1:n.2281-26C>T
ENST00000400913.5:c.2050-26C>T	ENSP00000383704.1:n.2050-26C>T
ENST00000400915.7:c.2218-26C>T	ENSP00000383706.3:n.2218-26C>T
ENST00000487949.4:n.1252-26C>T
ENST00000489097.5:n.2526-26C>T
ENST00000535355.5:c.2257-26C>T	ENSP00000441445.1:n.2257-26C>T
ENST00000537245.5:c.2287-26C>T	ENSP00000439625.1:n.2287-26C>T
NM_001042663.1:c.2218-26C>T	NP_001036128.1:n.2218-26C>T
NM_001042664.1:c.2050-26C>T	NP_001036129.1:n.2050-26C>T
NM_001042665.1:c.2050-26C>T	NP_001036130.1:n.2050-26C>T
NM_001265592.1:c.2287-26C>T	NP_001252521.1:n.2287-26C>T
NM_001265593.1:c.2257-26C>T	NP_001252522.1:n.2257-26C>T
NM_001265594.1:c.2050-26C>T	NP_001252523.1:n.2050-26C>T
NM_020631.4:c.2050-26C>T	NP_065682.2:n.2050-26C>T
NM_198681.3:c.2281-26C>T	NP_941374.2:n.2281-26C>T
NM_001042663.2:c.2218-26C>T	NP_001036128.1:n.2218-26C>T
NM_001265594.2:c.2050-26C>T	NP_001252523.1:n.2050-26C>T
NM_020631.5:c.2050-26C>T	NP_065682.2:n.2050-26C>T
NM_001042663.3:c.2161-26C>T	NP_001036128.2:n.2161-26C>T
NM_001265592.2:c.2161-26C>T	NP_001252521.2:n.2161-26C>T
NM_020631.6:c.2050-26C>T MANE Select	NP_065682.2:n.2050-26C>T
NM_198681.4:c.2050-26C>T	NP_941374.3:n.2050-26C>T