Canonical Allele Identifier: CA452725862
Gene: PLEKHG1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.151161126T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.150839990T>G , CM000668.2:g.150839990T>G GRCh38
NC_000006.11:g.151161126T>G , CM000668.1:g.151161126T>G GRCh37
NC_000006.10:g.151202819T>G NCBI36
NG_051299.1:g.245128T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000696526.1:c.3252T>G MANE Select ENSP00000512689.1:p.Leu1084=
ENST00000644968.1:c.3252T>G ENSP00000496254.1:p.Leu1084=
ENST00000358517.6:c.3252T>G ENSP00000351318.2:p.Leu1084=
ENST00000367328.5:c.3252T>G ENSP00000356297.1:p.Leu1084=
ENST00000475490.1:c.1158-1045T>G ENSP00000433107.1:n.1158-1045T>G
NM_001029884.1:c.3252T>G NP_001025055.1:p.Leu1084=
XM_005267064.2:c.3429T>G XP_005267121.1:p.Leu1143=
XM_005267065.2:c.3252T>G XP_005267122.1:p.Leu1084=
XM_005267066.1:c.3252T>G XP_005267123.1:p.Leu1084=
XM_006715521.1:c.3252T>G XP_006715584.1:p.Leu1084=
XM_006715522.2:c.3252T>G XP_006715585.1:p.Leu1084=
XM_011535981.1:c.3468T>G XP_011534283.1:p.Leu1156=
XM_011535982.1:c.3429T>G XP_011534284.1:p.Leu1143=
XM_011535983.1:c.3252T>G XP_011534285.1:p.Leu1084=
NM_001029884.2:c.3252T>G NP_001025055.1:p.Leu1084=
NM_001329798.1:c.3429T>G NP_001316727.1:p.Leu1143=
NM_001329799.1:c.3372T>G NP_001316728.1:p.Leu1124=
NM_001329800.1:c.3252T>G NP_001316729.1:p.Leu1084=
NM_001329801.1:c.3252T>G NP_001316730.1:p.Leu1084=
NM_001329802.1:c.3213T>G NP_001316731.1:p.Leu1071=
NM_001329803.1:c.3135T>G NP_001316732.1:p.Leu1045=
NM_001329804.1:c.1617-1045T>G NP_001316733.1:n.1617-1045T>G
NM_001329805.1:c.1617-1045T>G NP_001316734.1:n.1617-1045T>G
NM_001329806.1:c.1617-1045T>G NP_001316735.1:n.1617-1045T>G
NM_001029884.3:c.3252T>G MANE Select NP_001025055.1:p.Leu1084=
NM_001329798.2:c.3429T>G NP_001316727.1:p.Leu1143=
NM_001329799.2:c.3372T>G NP_001316728.1:p.Leu1124=
NM_001329800.2:c.3252T>G NP_001316729.1:p.Leu1084=
NM_001329801.2:c.3252T>G NP_001316730.1:p.Leu1084=
NM_001329802.2:c.3213T>G NP_001316731.1:p.Leu1071=
NM_001329803.2:c.3135T>G NP_001316732.1:p.Leu1045=
NM_001329804.2:c.1617-1045T>G NP_001316733.1:n.1617-1045T>G
NM_001329805.2:c.1617-1045T>G NP_001316734.1:n.1617-1045T>G
NM_001329806.2:c.1617-1045T>G NP_001316735.1:n.1617-1045T>G