Canonical Allele Identifier: CA338114988

Gene: PLEKHG5

Linked Data

• dbSNP Id: rs1444129854
• gnomAD v2: 1-6528140-G-A
• gnomAD v4: 1-6468080-G-A
• MyVariant Identifiers: chr1:g.6528140G>A (hg19) ; chr1:g.6468080G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6468080G>A , CM000663.2:g.6468080G>A	GRCh38
NC_000001.10:g.6528140G>A , CM000663.1:g.6528140G>A	GRCh37
NC_000001.9:g.6450727G>A	NCBI36
NG_007978.1:g.56930C>T , LRG_262:g.56930C>T
NG_029910.1:g.3116C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340850.10:c.2756C>T	ENSP00000344570.5:p.Ser919Phe
ENST00000377728.8:c.2756C>T MANE Select	ENSP00000366957.3:p.Ser919Phe
ENST00000377740.5:c.2756C>T	ENSP00000366969.4:p.Ser919Phe
ENST00000377748.6:c.2930C>T	ENSP00000366977.2:p.Ser977Phe
ENST00000400913.6:c.2756C>T	ENSP00000383704.1:p.Ser919Phe
ENST00000400915.8:c.2867C>T	ENSP00000383706.4:p.Ser956Phe
ENST00000489097.6:n.3232C>T
ENST00000535355.6:c.2963C>T	ENSP00000441445.1:p.Ser988Phe
ENST00000537245.6:c.2867C>T	ENSP00000439625.2:p.Ser956Phe
ENST00000673471.2:c.3053C>T	ENSP00000500749.1:p.Ser1018Phe
ENST00000674790.1:c.*2968C>T	ENSP00000502815.1:n.*2968C>T
ENST00000675123.1:c.2250-187C>T	ENSP00000502132.1:n.2250-187C>T
ENST00000675548.1:c.*2584C>T	ENSP00000502684.1:n.*2584C>T
ENST00000675694.1:c.2756C>T	ENSP00000501925.1:p.Ser919Phe
ENST00000675976.1:c.629C>T	ENSP00000501611.1:p.Ser210Phe
ENST00000340850.9:c.2756C>T	ENSP00000344570.5:p.Ser919Phe
ENST00000377725.5:c.2737+19C>T	ENSP00000366954.1:n.2737+19C>T
ENST00000377728.7:c.2756C>T	ENSP00000366957.3:p.Ser919Phe
ENST00000377732.5:c.2867C>T	ENSP00000366961.1:p.Ser956Phe
ENST00000377740.4:c.2481-187C>T	ENSP00000366969.3:n.2481-187C>T
ENST00000377748.5:c.2987C>T	ENSP00000366977.1:p.Ser996Phe
ENST00000400913.5:c.2756C>T	ENSP00000383704.1:p.Ser919Phe
ENST00000400915.7:c.2924C>T	ENSP00000383706.3:p.Ser975Phe
ENST00000487949.4:n.1958C>T
ENST00000489097.5:n.3232C>T
ENST00000535355.5:c.2963C>T	ENSP00000441445.1:p.Ser988Phe
ENST00000537245.5:c.2993C>T	ENSP00000439625.1:p.Ser998Phe
NM_001042663.1:c.2924C>T	NP_001036128.1:p.Ser975Phe
NM_001042664.1:c.2756C>T	NP_001036129.1:p.Ser919Phe
NM_001042665.1:c.2756C>T	NP_001036130.1:p.Ser919Phe
NM_001265592.1:c.2993C>T	NP_001252521.1:p.Ser998Phe
NM_001265593.1:c.2963C>T	NP_001252522.1:p.Ser988Phe
NM_001265594.1:c.2737+19C>T	NP_001252523.1:n.2737+19C>T
NM_020631.4:c.2756C>T	NP_065682.2:p.Ser919Phe
NM_198681.3:c.2987C>T	NP_941374.2:p.Ser996Phe
NM_001042663.2:c.2924C>T	NP_001036128.1:p.Ser975Phe
NM_001265594.2:c.2737+19C>T	NP_001252523.1:n.2737+19C>T
NM_020631.5:c.2756C>T	NP_065682.2:p.Ser919Phe
NM_001042663.3:c.2867C>T	NP_001036128.2:p.Ser956Phe
NM_001265592.2:c.2867C>T	NP_001252521.2:p.Ser956Phe
NM_020631.6:c.2756C>T MANE Select	NP_065682.2:p.Ser919Phe
NM_198681.4:c.2756C>T	NP_941374.3:p.Ser919Phe