Canonical Allele Identifier: CA416022345

Gene: PLEKHG5

Linked Data

• dbSNP Id: rs1385631068
• gnomAD v2: 1-6528169-A-G
• gnomAD v4: 1-6468109-A-G
• MyVariant Identifiers: chr1:g.6528169A>G (hg19) ; chr1:g.6468109A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6468109A>G , CM000663.2:g.6468109A>G	GRCh38
NC_000001.10:g.6528169A>G , CM000663.1:g.6528169A>G	GRCh37
NC_000001.9:g.6450756A>G	NCBI36
NG_007978.1:g.56901T>C , LRG_262:g.56901T>C
NG_029910.1:g.3087T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340850.10:c.2727T>C	ENSP00000344570.5:p.Val909=
ENST00000377728.8:c.2727T>C MANE Select	ENSP00000366957.3:p.Val909=
ENST00000377740.5:c.2727T>C	ENSP00000366969.4:p.Val909=
ENST00000377748.6:c.2901T>C	ENSP00000366977.2:p.Val967=
ENST00000400913.6:c.2727T>C	ENSP00000383704.1:p.Val909=
ENST00000400915.8:c.2838T>C	ENSP00000383706.4:p.Val946=
ENST00000489097.6:n.3203T>C
ENST00000535355.6:c.2934T>C	ENSP00000441445.1:p.Val978=
ENST00000537245.6:c.2838T>C	ENSP00000439625.2:p.Val946=
ENST00000673471.2:c.3024T>C	ENSP00000500749.1:p.Val1008=
ENST00000674790.1:c.*2939T>C	ENSP00000502815.1:n.*2939T>C
ENST00000675123.1:c.2250-216T>C	ENSP00000502132.1:n.2250-216T>C
ENST00000675548.1:c.*2555T>C	ENSP00000502684.1:n.*2555T>C
ENST00000675694.1:c.2727T>C	ENSP00000501925.1:p.Val909=
ENST00000675976.1:c.600T>C	ENSP00000501611.1:p.Val200=
ENST00000340850.9:c.2727T>C	ENSP00000344570.5:p.Val909=
ENST00000377725.5:c.2727T>C	ENSP00000366954.1:p.Val909=
ENST00000377728.7:c.2727T>C	ENSP00000366957.3:p.Val909=
ENST00000377732.5:c.2838T>C	ENSP00000366961.1:p.Val946=
ENST00000377740.4:c.2481-216T>C	ENSP00000366969.3:n.2481-216T>C
ENST00000377748.5:c.2958T>C	ENSP00000366977.1:p.Val986=
ENST00000400913.5:c.2727T>C	ENSP00000383704.1:p.Val909=
ENST00000400915.7:c.2895T>C	ENSP00000383706.3:p.Val965=
ENST00000487949.4:n.1929T>C
ENST00000489097.5:n.3203T>C
ENST00000535355.5:c.2934T>C	ENSP00000441445.1:p.Val978=
ENST00000537245.5:c.2964T>C	ENSP00000439625.1:p.Val988=
NM_001042663.1:c.2895T>C	NP_001036128.1:p.Val965=
NM_001042664.1:c.2727T>C	NP_001036129.1:p.Val909=
NM_001042665.1:c.2727T>C	NP_001036130.1:p.Val909=
NM_001265592.1:c.2964T>C	NP_001252521.1:p.Val988=
NM_001265593.1:c.2934T>C	NP_001252522.1:p.Val978=
NM_001265594.1:c.2727T>C	NP_001252523.1:p.Val909=
NM_020631.4:c.2727T>C	NP_065682.2:p.Val909=
NM_198681.3:c.2958T>C	NP_941374.2:p.Val986=
NM_001042663.2:c.2895T>C	NP_001036128.1:p.Val965=
NM_001265594.2:c.2727T>C	NP_001252523.1:p.Val909=
NM_020631.5:c.2727T>C	NP_065682.2:p.Val909=
NM_001042663.3:c.2838T>C	NP_001036128.2:p.Val946=
NM_001265592.2:c.2838T>C	NP_001252521.2:p.Val946=
NM_020631.6:c.2727T>C MANE Select	NP_065682.2:p.Val909=
NM_198681.4:c.2727T>C	NP_941374.3:p.Val909=