Canonical Allele Identifier: CA366050594

Gene: PLEKHG1

Linked Data

• MyVariant Identifiers: chr6:g.151161025C>G (hg19) ; chr6:g.150839889C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.150839889C>G , CM000668.2:g.150839889C>G	GRCh38
NC_000006.11:g.151161025C>G , CM000668.1:g.151161025C>G	GRCh37
NC_000006.10:g.151202718C>G	NCBI36
NG_051299.1:g.245027C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000696526.1:c.3151C>G MANE Select	ENSP00000512689.1:p.Pro1051Ala
ENST00000644968.1:c.3151C>G	ENSP00000496254.1:p.Pro1051Ala
ENST00000358517.6:c.3151C>G	ENSP00000351318.2:p.Pro1051Ala
ENST00000367328.5:c.3151C>G	ENSP00000356297.1:p.Pro1051Ala
ENST00000475490.1:c.1158-1146C>G	ENSP00000433107.1:n.1158-1146C>G
NM_001029884.1:c.3151C>G	NP_001025055.1:p.Pro1051Ala
XM_005267064.2:c.3328C>G	XP_005267121.1:p.Pro1110Ala
XM_005267065.2:c.3151C>G	XP_005267122.1:p.Pro1051Ala
XM_005267066.1:c.3151C>G	XP_005267123.1:p.Pro1051Ala
XM_006715521.1:c.3151C>G	XP_006715584.1:p.Pro1051Ala
XM_006715522.2:c.3151C>G	XP_006715585.1:p.Pro1051Ala
XM_011535981.1:c.3367C>G	XP_011534283.1:p.Pro1123Ala
XM_011535982.1:c.3328C>G	XP_011534284.1:p.Pro1110Ala
XM_011535983.1:c.3151C>G	XP_011534285.1:p.Pro1051Ala
NM_001029884.2:c.3151C>G	NP_001025055.1:p.Pro1051Ala
NM_001329798.1:c.3328C>G	NP_001316727.1:p.Pro1110Ala
NM_001329799.1:c.3271C>G	NP_001316728.1:p.Pro1091Ala
NM_001329800.1:c.3151C>G	NP_001316729.1:p.Pro1051Ala
NM_001329801.1:c.3151C>G	NP_001316730.1:p.Pro1051Ala
NM_001329802.1:c.3112C>G	NP_001316731.1:p.Pro1038Ala
NM_001329803.1:c.3034C>G	NP_001316732.1:p.Pro1012Ala
NM_001329804.1:c.1617-1146C>G	NP_001316733.1:n.1617-1146C>G
NM_001329805.1:c.1617-1146C>G	NP_001316734.1:n.1617-1146C>G
NM_001329806.1:c.1617-1146C>G	NP_001316735.1:n.1617-1146C>G
NM_001029884.3:c.3151C>G MANE Select	NP_001025055.1:p.Pro1051Ala
NM_001329798.2:c.3328C>G	NP_001316727.1:p.Pro1110Ala
NM_001329799.2:c.3271C>G	NP_001316728.1:p.Pro1091Ala
NM_001329800.2:c.3151C>G	NP_001316729.1:p.Pro1051Ala
NM_001329801.2:c.3151C>G	NP_001316730.1:p.Pro1051Ala
NM_001329802.2:c.3112C>G	NP_001316731.1:p.Pro1038Ala
NM_001329803.2:c.3034C>G	NP_001316732.1:p.Pro1012Ala
NM_001329804.2:c.1617-1146C>G	NP_001316733.1:n.1617-1146C>G
NM_001329805.2:c.1617-1146C>G	NP_001316734.1:n.1617-1146C>G
NM_001329806.2:c.1617-1146C>G	NP_001316735.1:n.1617-1146C>G