Canonical Allele Identifier: CA338139071

Gene: PLEKHG5

Linked Data

• dbSNP Id: rs1644697269
• MyVariant Identifiers: chr1:g.6534526A>G (hg19) ; chr1:g.6474466A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6474466A>G , CM000663.2:g.6474466A>G	GRCh38
NC_000001.10:g.6534526A>G , CM000663.1:g.6534526A>G	GRCh37
NC_000001.9:g.6457113A>G	NCBI36
NG_007978.1:g.50544T>C , LRG_262:g.50544T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340850.10:c.424T>C	ENSP00000344570.5:p.Tyr142His
ENST00000377728.8:c.424T>C MANE Select	ENSP00000366957.3:p.Tyr142His
ENST00000377740.5:c.424T>C	ENSP00000366969.4:p.Tyr142His
ENST00000377748.6:c.598T>C	ENSP00000366977.2:p.Tyr200His
ENST00000400913.6:c.424T>C	ENSP00000383704.1:p.Tyr142His
ENST00000400915.8:c.535T>C	ENSP00000383706.4:p.Tyr179His
ENST00000489097.6:n.900T>C
ENST00000535355.6:c.631T>C	ENSP00000441445.1:p.Tyr211His
ENST00000537245.6:c.535T>C	ENSP00000439625.2:p.Tyr179His
ENST00000673471.2:c.721T>C	ENSP00000500749.1:p.Tyr241His
ENST00000674790.1:c.*636T>C	ENSP00000502815.1:n.*636T>C
ENST00000675123.1:c.424T>C	ENSP00000502132.1:p.Tyr142His
ENST00000675548.1:c.*252T>C	ENSP00000502684.1:n.*252T>C
ENST00000675694.1:c.424T>C	ENSP00000501925.1:p.Tyr142His
ENST00000676255.1:c.386T>C	ENSP00000502459.1:n.386T>C
ENST00000340850.9:c.424T>C	ENSP00000344570.5:p.Tyr142His
ENST00000377725.5:c.424T>C	ENSP00000366954.1:p.Tyr142His
ENST00000377728.7:c.424T>C	ENSP00000366957.3:p.Tyr142His
ENST00000377732.5:c.535T>C	ENSP00000366961.1:p.Tyr179His
ENST00000377740.4:c.655T>C	ENSP00000366969.3:p.Tyr219His
ENST00000377748.5:c.655T>C	ENSP00000366977.1:p.Tyr219His
ENST00000400913.5:c.424T>C	ENSP00000383704.1:p.Tyr142His
ENST00000400915.7:c.592T>C	ENSP00000383706.3:p.Tyr198His
ENST00000489097.5:n.900T>C
ENST00000535355.5:c.631T>C	ENSP00000441445.1:p.Tyr211His
ENST00000537245.5:c.661T>C	ENSP00000439625.1:p.Tyr221His
NM_001042663.1:c.592T>C	NP_001036128.1:p.Tyr198His
NM_001042664.1:c.424T>C	NP_001036129.1:p.Tyr142His
NM_001042665.1:c.424T>C	NP_001036130.1:p.Tyr142His
NM_001265592.1:c.661T>C	NP_001252521.1:p.Tyr221His
NM_001265593.1:c.631T>C	NP_001252522.1:p.Tyr211His
NM_001265594.1:c.424T>C	NP_001252523.1:p.Tyr142His
NM_020631.4:c.424T>C	NP_065682.2:p.Tyr142His
NM_198681.3:c.655T>C	NP_941374.2:p.Tyr219His
NM_001042663.2:c.592T>C	NP_001036128.1:p.Tyr198His
NM_001265594.2:c.424T>C	NP_001252523.1:p.Tyr142His
NM_020631.5:c.424T>C	NP_065682.2:p.Tyr142His
NM_001042663.3:c.535T>C	NP_001036128.2:p.Tyr179His
NM_001265592.2:c.535T>C	NP_001252521.2:p.Tyr179His
NM_020631.6:c.424T>C MANE Select	NP_065682.2:p.Tyr142His
NM_198681.4:c.424T>C	NP_941374.3:p.Tyr142His