Canonical Allele Identifier: CA416022828

Gene: PLEKHG5

Linked Data

• gnomAD v4: 1-6470834-C-G
• MyVariant Identifiers: chr1:g.6530894C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6470834C>G , CM000663.2:g.6470834C>G	GRCh38
NC_000001.10:g.6530894C>G , CM000663.1:g.6530894C>G	GRCh37
NC_000001.9:g.6453481C>G	NCBI36
NG_007978.1:g.54176G>C , LRG_262:g.54176G>C
NG_029910.1:g.362G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340850.10:c.1443G>C	ENSP00000344570.5:p.Leu481=
ENST00000377728.8:c.1443G>C MANE Select	ENSP00000366957.3:p.Leu481=
ENST00000377740.5:c.1443G>C	ENSP00000366969.4:p.Leu481=
ENST00000377748.6:c.1617G>C	ENSP00000366977.2:p.Leu539=
ENST00000400913.6:c.1443G>C	ENSP00000383704.1:p.Leu481=
ENST00000400915.8:c.1554G>C	ENSP00000383706.4:p.Leu518=
ENST00000489097.6:n.1919G>C
ENST00000535355.6:c.1650G>C	ENSP00000441445.1:p.Leu550=
ENST00000537245.6:c.1554G>C	ENSP00000439625.2:p.Leu518=
ENST00000673471.2:c.1740G>C	ENSP00000500749.1:p.Leu580=
ENST00000674685.1:n.476G>C
ENST00000674790.1:c.*1655G>C	ENSP00000502815.1:n.*1655G>C
ENST00000674943.1:n.105G>C
ENST00000675123.1:c.1443G>C	ENSP00000502132.1:p.Leu481=
ENST00000675548.1:c.*1271G>C	ENSP00000502684.1:n.*1271G>C
ENST00000675694.1:c.1443G>C	ENSP00000501925.1:p.Leu481=
ENST00000340850.9:c.1443G>C	ENSP00000344570.5:p.Leu481=
ENST00000377725.5:c.1443G>C	ENSP00000366954.1:p.Leu481=
ENST00000377728.7:c.1443G>C	ENSP00000366957.3:p.Leu481=
ENST00000377732.5:c.1554G>C	ENSP00000366961.1:p.Leu518=
ENST00000377740.4:c.1674G>C	ENSP00000366969.3:p.Leu558=
ENST00000377748.5:c.1674G>C	ENSP00000366977.1:p.Leu558=
ENST00000400913.5:c.1443G>C	ENSP00000383704.1:p.Leu481=
ENST00000400915.7:c.1611G>C	ENSP00000383706.3:p.Leu537=
ENST00000487949.4:n.645G>C
ENST00000489097.5:n.1919G>C
ENST00000535355.5:c.1650G>C	ENSP00000441445.1:p.Leu550=
ENST00000537245.5:c.1680G>C	ENSP00000439625.1:p.Leu560=
NM_001042663.1:c.1611G>C	NP_001036128.1:p.Leu537=
NM_001042664.1:c.1443G>C	NP_001036129.1:p.Leu481=
NM_001042665.1:c.1443G>C	NP_001036130.1:p.Leu481=
NM_001265592.1:c.1680G>C	NP_001252521.1:p.Leu560=
NM_001265593.1:c.1650G>C	NP_001252522.1:p.Leu550=
NM_001265594.1:c.1443G>C	NP_001252523.1:p.Leu481=
NM_020631.4:c.1443G>C	NP_065682.2:p.Leu481=
NM_198681.3:c.1674G>C	NP_941374.2:p.Leu558=
NM_001042663.2:c.1611G>C	NP_001036128.1:p.Leu537=
NM_001265594.2:c.1443G>C	NP_001252523.1:p.Leu481=
NM_020631.5:c.1443G>C	NP_065682.2:p.Leu481=
NM_001042663.3:c.1554G>C	NP_001036128.2:p.Leu518=
NM_001265592.2:c.1554G>C	NP_001252521.2:p.Leu518=
NM_020631.6:c.1443G>C MANE Select	NP_065682.2:p.Leu481=
NM_198681.4:c.1443G>C	NP_941374.3:p.Leu481=