Canonical Allele Identifier: CA366050575

Gene: PLEKHG1

Linked Data

• MyVariant Identifiers: chr6:g.151161017G>C (hg19) ; chr6:g.150839881G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.150839881G>C , CM000668.2:g.150839881G>C	GRCh38
NC_000006.11:g.151161017G>C , CM000668.1:g.151161017G>C	GRCh37
NC_000006.10:g.151202710G>C	NCBI36
NG_051299.1:g.245019G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696526.1:c.3143G>C MANE Select	ENSP00000512689.1:p.Arg1048Thr
ENST00000644968.1:c.3143G>C	ENSP00000496254.1:p.Arg1048Thr
ENST00000358517.6:c.3143G>C	ENSP00000351318.2:p.Arg1048Thr
ENST00000367328.5:c.3143G>C	ENSP00000356297.1:p.Arg1048Thr
ENST00000475490.1:c.1158-1154G>C	ENSP00000433107.1:n.1158-1154G>C
NM_001029884.1:c.3143G>C	NP_001025055.1:p.Arg1048Thr
XM_005267064.2:c.3320G>C	XP_005267121.1:p.Arg1107Thr
XM_005267065.2:c.3143G>C	XP_005267122.1:p.Arg1048Thr
XM_005267066.1:c.3143G>C	XP_005267123.1:p.Arg1048Thr
XM_006715521.1:c.3143G>C	XP_006715584.1:p.Arg1048Thr
XM_006715522.2:c.3143G>C	XP_006715585.1:p.Arg1048Thr
XM_011535981.1:c.3359G>C	XP_011534283.1:p.Arg1120Thr
XM_011535982.1:c.3320G>C	XP_011534284.1:p.Arg1107Thr
XM_011535983.1:c.3143G>C	XP_011534285.1:p.Arg1048Thr
NM_001029884.2:c.3143G>C	NP_001025055.1:p.Arg1048Thr
NM_001329798.1:c.3320G>C	NP_001316727.1:p.Arg1107Thr
NM_001329799.1:c.3263G>C	NP_001316728.1:p.Arg1088Thr
NM_001329800.1:c.3143G>C	NP_001316729.1:p.Arg1048Thr
NM_001329801.1:c.3143G>C	NP_001316730.1:p.Arg1048Thr
NM_001329802.1:c.3104G>C	NP_001316731.1:p.Arg1035Thr
NM_001329803.1:c.3026G>C	NP_001316732.1:p.Arg1009Thr
NM_001329804.1:c.1617-1154G>C	NP_001316733.1:n.1617-1154G>C
NM_001329805.1:c.1617-1154G>C	NP_001316734.1:n.1617-1154G>C
NM_001329806.1:c.1617-1154G>C	NP_001316735.1:n.1617-1154G>C
NM_001029884.3:c.3143G>C MANE Select	NP_001025055.1:p.Arg1048Thr
NM_001329798.2:c.3320G>C	NP_001316727.1:p.Arg1107Thr
NM_001329799.2:c.3263G>C	NP_001316728.1:p.Arg1088Thr
NM_001329800.2:c.3143G>C	NP_001316729.1:p.Arg1048Thr
NM_001329801.2:c.3143G>C	NP_001316730.1:p.Arg1048Thr
NM_001329802.2:c.3104G>C	NP_001316731.1:p.Arg1035Thr
NM_001329803.2:c.3026G>C	NP_001316732.1:p.Arg1009Thr
NM_001329804.2:c.1617-1154G>C	NP_001316733.1:n.1617-1154G>C
NM_001329805.2:c.1617-1154G>C	NP_001316734.1:n.1617-1154G>C
NM_001329806.2:c.1617-1154G>C	NP_001316735.1:n.1617-1154G>C