Canonical Allele Identifier: CA562038

Gene: PLEKHG5

Linked Data

• ClinVar Variation Id: 246031
• ClinVar RCV Id: RCV000272467 ; RCV000415946 ; RCV001087015 ; RCV002450730 ; RCV003343722 ; RCV003907906
• dbSNP Id: rs140687324
• ExAC: 1:6537598 G / T
• gnomAD v2: 1-6537598-G-T
• gnomAD v3: 1-6477538-G-T
• gnomAD v4: 1-6477538-G-T
• MyVariant Identifiers: chr1:g.6537598G>T (hg19) ; chr1:g.6477538G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6477538G>T , CM000663.2:g.6477538G>T	GRCh38
NC_000001.10:g.6537598G>T , CM000663.1:g.6537598G>T	GRCh37
NC_000001.9:g.6460185G>T	NCBI36
NG_007978.1:g.47472C>A , LRG_262:g.47472C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340850.10:c.34C>A	ENSP00000344570.5:p.Pro12Thr
ENST00000377728.8:c.34C>A MANE Select	ENSP00000366957.3:p.Pro12Thr
ENST00000377740.5:c.34C>A	ENSP00000366969.4:p.Pro12Thr
ENST00000377748.6:c.145C>A	ENSP00000366977.2:p.Pro49Thr
ENST00000400913.6:c.34C>A	ENSP00000383704.1:p.Pro12Thr
ENST00000400915.8:c.145C>A	ENSP00000383706.4:p.Pro49Thr
ENST00000489097.6:n.51C>A
ENST00000535355.6:c.241C>A	ENSP00000441445.1:p.Pro81Thr
ENST00000537245.6:c.145C>A	ENSP00000439625.2:p.Pro49Thr
ENST00000673471.2:c.331C>A	ENSP00000500749.1:p.Pro111Thr
ENST00000674790.1:c.*246C>A	ENSP00000502815.1:n.*246C>A
ENST00000674803.1:n.264C>A
ENST00000675093.1:c.34C>A	ENSP00000502687.1:p.Pro12Thr
ENST00000675123.1:c.34C>A	ENSP00000502132.1:p.Pro12Thr
ENST00000675548.1:c.219C>A	ENSP00000502684.1:p.Phe73Leu
ENST00000675655.1:n.240C>A
ENST00000675694.1:c.34C>A	ENSP00000501925.1:p.Pro12Thr
ENST00000676287.1:c.34C>A	ENSP00000502810.1:p.Pro12Thr
ENST00000676362.1:n.257C>A
ENST00000340850.9:c.34C>A	ENSP00000344570.5:p.Pro12Thr
ENST00000377725.5:c.34C>A	ENSP00000366954.1:p.Pro12Thr
ENST00000377728.7:c.34C>A	ENSP00000366957.3:p.Pro12Thr
ENST00000377732.5:c.145C>A	ENSP00000366961.1:p.Pro49Thr
ENST00000377740.4:c.265C>A	ENSP00000366969.3:p.Pro89Thr
ENST00000377748.5:c.265C>A	ENSP00000366977.1:p.Pro89Thr
ENST00000400913.5:c.34C>A	ENSP00000383704.1:p.Pro12Thr
ENST00000400915.7:c.202C>A	ENSP00000383706.3:p.Pro68Thr
ENST00000489097.5:n.51C>A
ENST00000535355.5:c.241C>A	ENSP00000441445.1:p.Pro81Thr
ENST00000537245.5:c.271C>A	ENSP00000439625.1:p.Pro91Thr
NM_001042663.1:c.202C>A	NP_001036128.1:p.Pro68Thr
NM_001042664.1:c.34C>A	NP_001036129.1:p.Pro12Thr
NM_001042665.1:c.34C>A	NP_001036130.1:p.Pro12Thr
NM_001265592.1:c.271C>A	NP_001252521.1:p.Pro91Thr
NM_001265593.1:c.241C>A	NP_001252522.1:p.Pro81Thr
NM_001265594.1:c.34C>A	NP_001252523.1:p.Pro12Thr
NM_020631.4:c.34C>A	NP_065682.2:p.Pro12Thr
NM_198681.3:c.265C>A	NP_941374.2:p.Pro89Thr
NM_001042663.2:c.202C>A	NP_001036128.1:p.Pro68Thr
NM_001265594.2:c.34C>A	NP_001252523.1:p.Pro12Thr
NM_020631.5:c.34C>A	NP_065682.2:p.Pro12Thr
NM_001042663.3:c.145C>A	NP_001036128.2:p.Pro49Thr
NM_001265592.2:c.145C>A	NP_001252521.2:p.Pro49Thr
NM_020631.6:c.34C>A MANE Select	NP_065682.2:p.Pro12Thr
NM_198681.4:c.34C>A	NP_941374.3:p.Pro12Thr