Canonical Allele Identifier: CA415834178

Gene: PLEKHG5

Linked Data

• dbSNP Id: rs1644701014
• MyVariant Identifiers: chr1:g.6534635C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6474575C>T , CM000663.2:g.6474575C>T	GRCh38
NC_000001.10:g.6534635C>T , CM000663.1:g.6534635C>T	GRCh37
NC_000001.9:g.6457222C>T	NCBI36
NG_007978.1:g.50435G>A , LRG_262:g.50435G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340850.10:c.315G>A	ENSP00000344570.5:p.Leu105=
ENST00000377728.8:c.315G>A MANE Select	ENSP00000366957.3:p.Leu105=
ENST00000377740.5:c.315G>A	ENSP00000366969.4:p.Leu105=
ENST00000377748.6:c.489G>A	ENSP00000366977.2:p.Leu163=
ENST00000400913.6:c.315G>A	ENSP00000383704.1:p.Leu105=
ENST00000400915.8:c.426G>A	ENSP00000383706.4:p.Leu142=
ENST00000489097.6:n.791G>A
ENST00000535355.6:c.522G>A	ENSP00000441445.1:p.Leu174=
ENST00000537245.6:c.426G>A	ENSP00000439625.2:p.Leu142=
ENST00000673471.2:c.612G>A	ENSP00000500749.1:p.Leu204=
ENST00000674790.1:c.*527G>A	ENSP00000502815.1:n.*527G>A
ENST00000675093.1:c.315G>A	ENSP00000502687.1:p.Leu105=
ENST00000675123.1:c.315G>A	ENSP00000502132.1:p.Leu105=
ENST00000675548.1:c.*143G>A	ENSP00000502684.1:n.*143G>A
ENST00000675694.1:c.315G>A	ENSP00000501925.1:p.Leu105=
ENST00000676255.1:c.277G>A	ENSP00000502459.1:n.277G>A
ENST00000340850.9:c.315G>A	ENSP00000344570.5:p.Leu105=
ENST00000377725.5:c.315G>A	ENSP00000366954.1:p.Leu105=
ENST00000377728.7:c.315G>A	ENSP00000366957.3:p.Leu105=
ENST00000377732.5:c.426G>A	ENSP00000366961.1:p.Leu142=
ENST00000377740.4:c.546G>A	ENSP00000366969.3:p.Leu182=
ENST00000377748.5:c.546G>A	ENSP00000366977.1:p.Leu182=
ENST00000400913.5:c.315G>A	ENSP00000383704.1:p.Leu105=
ENST00000400915.7:c.483G>A	ENSP00000383706.3:p.Leu161=
ENST00000489097.5:n.791G>A
ENST00000535355.5:c.522G>A	ENSP00000441445.1:p.Leu174=
ENST00000537245.5:c.552G>A	ENSP00000439625.1:p.Leu184=
NM_001042663.1:c.483G>A	NP_001036128.1:p.Leu161=
NM_001042664.1:c.315G>A	NP_001036129.1:p.Leu105=
NM_001042665.1:c.315G>A	NP_001036130.1:p.Leu105=
NM_001265592.1:c.552G>A	NP_001252521.1:p.Leu184=
NM_001265593.1:c.522G>A	NP_001252522.1:p.Leu174=
NM_001265594.1:c.315G>A	NP_001252523.1:p.Leu105=
NM_020631.4:c.315G>A	NP_065682.2:p.Leu105=
NM_198681.3:c.546G>A	NP_941374.2:p.Leu182=
NM_001042663.2:c.483G>A	NP_001036128.1:p.Leu161=
NM_001265594.2:c.315G>A	NP_001252523.1:p.Leu105=
NM_020631.5:c.315G>A	NP_065682.2:p.Leu105=
NM_001042663.3:c.426G>A	NP_001036128.2:p.Leu142=
NM_001265592.2:c.426G>A	NP_001252521.2:p.Leu142=
NM_020631.6:c.315G>A MANE Select	NP_065682.2:p.Leu105=
NM_198681.4:c.315G>A	NP_941374.3:p.Leu105=