Canonical Allele Identifier: CA4048105
Gene: PLEKHG1 HGNC NCBI

Linked Data

dbSNP Id: rs768679392

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.150839857A>G , CM000668.2:g.150839857A>G GRCh38
NC_000006.11:g.151160993A>G , CM000668.1:g.151160993A>G GRCh37
NC_000006.10:g.151202686A>G NCBI36
NG_051299.1:g.244995A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000696526.1:c.3119A>G MANE Select ENSP00000512689.1:p.Gln1040Arg
ENST00000644968.1:c.3119A>G ENSP00000496254.1:p.Gln1040Arg
ENST00000358517.6:c.3119A>G ENSP00000351318.2:p.Gln1040Arg
ENST00000367328.5:c.3119A>G ENSP00000356297.1:p.Gln1040Arg
ENST00000475490.1:c.1158-1178A>G ENSP00000433107.1:n.1158-1178A>G
NM_001029884.1:c.3119A>G NP_001025055.1:p.Gln1040Arg
XM_005267064.2:c.3296A>G XP_005267121.1:p.Gln1099Arg
XM_005267065.2:c.3119A>G XP_005267122.1:p.Gln1040Arg
XM_005267066.1:c.3119A>G XP_005267123.1:p.Gln1040Arg
XM_006715521.1:c.3119A>G XP_006715584.1:p.Gln1040Arg
XM_006715522.2:c.3119A>G XP_006715585.1:p.Gln1040Arg
XM_011535981.1:c.3335A>G XP_011534283.1:p.Gln1112Arg
XM_011535982.1:c.3296A>G XP_011534284.1:p.Gln1099Arg
XM_011535983.1:c.3119A>G XP_011534285.1:p.Gln1040Arg
NM_001029884.2:c.3119A>G NP_001025055.1:p.Gln1040Arg
NM_001329798.1:c.3296A>G NP_001316727.1:p.Gln1099Arg
NM_001329799.1:c.3239A>G NP_001316728.1:p.Gln1080Arg
NM_001329800.1:c.3119A>G NP_001316729.1:p.Gln1040Arg
NM_001329801.1:c.3119A>G NP_001316730.1:p.Gln1040Arg
NM_001329802.1:c.3080A>G NP_001316731.1:p.Gln1027Arg
NM_001329803.1:c.3002A>G NP_001316732.1:p.Gln1001Arg
NM_001329804.1:c.1617-1178A>G NP_001316733.1:n.1617-1178A>G
NM_001329805.1:c.1617-1178A>G NP_001316734.1:n.1617-1178A>G
NM_001329806.1:c.1617-1178A>G NP_001316735.1:n.1617-1178A>G
NM_001029884.3:c.3119A>G MANE Select NP_001025055.1:p.Gln1040Arg
NM_001329798.2:c.3296A>G NP_001316727.1:p.Gln1099Arg
NM_001329799.2:c.3239A>G NP_001316728.1:p.Gln1080Arg
NM_001329800.2:c.3119A>G NP_001316729.1:p.Gln1040Arg
NM_001329801.2:c.3119A>G NP_001316730.1:p.Gln1040Arg
NM_001329802.2:c.3080A>G NP_001316731.1:p.Gln1027Arg
NM_001329803.2:c.3002A>G NP_001316732.1:p.Gln1001Arg
NM_001329804.2:c.1617-1178A>G NP_001316733.1:n.1617-1178A>G
NM_001329805.2:c.1617-1178A>G NP_001316734.1:n.1617-1178A>G
NM_001329806.2:c.1617-1178A>G NP_001316735.1:n.1617-1178A>G