Canonical Allele Identifier: CA338127751

Gene: PLEKHG5

Linked Data

• ClinVar Variation Id: 2494881
• ClinVar RCV Id: RCV003206653
• dbSNP Id: rs767686554
• gnomAD v2: 1-6531097-T-G
• gnomAD v3: 1-6471037-T-G
• gnomAD v4: 1-6471037-T-G
• MyVariant Identifiers: chr1:g.6531097T>G (hg19) ; chr1:g.6471037T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6471037T>G , CM000663.2:g.6471037T>G	GRCh38
NC_000001.10:g.6531097T>G , CM000663.1:g.6531097T>G	GRCh37
NC_000001.9:g.6453684T>G	NCBI36
NG_007978.1:g.53973A>C , LRG_262:g.53973A>C
NG_029910.1:g.159A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340850.10:c.1345A>C	ENSP00000344570.5:p.Met449Leu
ENST00000377728.8:c.1345A>C MANE Select	ENSP00000366957.3:p.Met449Leu
ENST00000377740.5:c.1345A>C	ENSP00000366969.4:p.Met449Leu
ENST00000377748.6:c.1519A>C	ENSP00000366977.2:p.Met507Leu
ENST00000400913.6:c.1345A>C	ENSP00000383704.1:p.Met449Leu
ENST00000400915.8:c.1456A>C	ENSP00000383706.4:p.Met486Leu
ENST00000489097.6:n.1821A>C
ENST00000535355.6:c.1552A>C	ENSP00000441445.1:p.Met518Leu
ENST00000537245.6:c.1456A>C	ENSP00000439625.2:p.Met486Leu
ENST00000673471.2:c.1642A>C	ENSP00000500749.1:p.Met548Leu
ENST00000674685.1:n.378A>C
ENST00000674790.1:c.*1557A>C	ENSP00000502815.1:n.*1557A>C
ENST00000675123.1:c.1345A>C	ENSP00000502132.1:p.Met449Leu
ENST00000675548.1:c.*1173A>C	ENSP00000502684.1:n.*1173A>C
ENST00000675694.1:c.1345A>C	ENSP00000501925.1:p.Met449Leu
ENST00000340850.9:c.1345A>C	ENSP00000344570.5:p.Met449Leu
ENST00000377725.5:c.1345A>C	ENSP00000366954.1:p.Met449Leu
ENST00000377728.7:c.1345A>C	ENSP00000366957.3:p.Met449Leu
ENST00000377732.5:c.1456A>C	ENSP00000366961.1:p.Met486Leu
ENST00000377740.4:c.1576A>C	ENSP00000366969.3:p.Met526Leu
ENST00000377748.5:c.1576A>C	ENSP00000366977.1:p.Met526Leu
ENST00000400913.5:c.1345A>C	ENSP00000383704.1:p.Met449Leu
ENST00000400915.7:c.1513A>C	ENSP00000383706.3:p.Met505Leu
ENST00000487949.4:n.547A>C
ENST00000489097.5:n.1821A>C
ENST00000535355.5:c.1552A>C	ENSP00000441445.1:p.Met518Leu
ENST00000537245.5:c.1582A>C	ENSP00000439625.1:p.Met528Leu
NM_001042663.1:c.1513A>C	NP_001036128.1:p.Met505Leu
NM_001042664.1:c.1345A>C	NP_001036129.1:p.Met449Leu
NM_001042665.1:c.1345A>C	NP_001036130.1:p.Met449Leu
NM_001265592.1:c.1582A>C	NP_001252521.1:p.Met528Leu
NM_001265593.1:c.1552A>C	NP_001252522.1:p.Met518Leu
NM_001265594.1:c.1345A>C	NP_001252523.1:p.Met449Leu
NM_020631.4:c.1345A>C	NP_065682.2:p.Met449Leu
NM_198681.3:c.1576A>C	NP_941374.2:p.Met526Leu
NM_001042663.2:c.1513A>C	NP_001036128.1:p.Met505Leu
NM_001265594.2:c.1345A>C	NP_001252523.1:p.Met449Leu
NM_020631.5:c.1345A>C	NP_065682.2:p.Met449Leu
NM_001042663.3:c.1456A>C	NP_001036128.2:p.Met486Leu
NM_001265592.2:c.1456A>C	NP_001252521.2:p.Met486Leu
NM_020631.6:c.1345A>C MANE Select	NP_065682.2:p.Met449Leu
NM_198681.4:c.1345A>C	NP_941374.3:p.Met449Leu