Canonical Allele Identifier: CA4048109

Gene: PLEKHG1

Linked Data

• dbSNP Id: rs772048396
• ExAC: 6:151161025 C / T
• gnomAD v2: 6-151161025-C-T
• gnomAD v4: 6-150839889-C-T
• MyVariant Identifiers: chr6:g.151161025C>T (hg19) ; chr6:g.150839889C>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696526.1:c.3151C>T MANE Select	ENSP00000512689.1:p.Pro1051Ser
ENST00000644968.1:c.3151C>T	ENSP00000496254.1:p.Pro1051Ser
ENST00000358517.6:c.3151C>T	ENSP00000351318.2:p.Pro1051Ser
ENST00000367328.5:c.3151C>T	ENSP00000356297.1:p.Pro1051Ser
ENST00000475490.1:c.1158-1146C>T	ENSP00000433107.1:n.1158-1146C>T
NM_001029884.1:c.3151C>T	NP_001025055.1:p.Pro1051Ser
XM_005267064.2:c.3328C>T	XP_005267121.1:p.Pro1110Ser
XM_005267065.2:c.3151C>T	XP_005267122.1:p.Pro1051Ser
XM_005267066.1:c.3151C>T	XP_005267123.1:p.Pro1051Ser
XM_006715521.1:c.3151C>T	XP_006715584.1:p.Pro1051Ser
XM_006715522.2:c.3151C>T	XP_006715585.1:p.Pro1051Ser
XM_011535981.1:c.3367C>T	XP_011534283.1:p.Pro1123Ser
XM_011535982.1:c.3328C>T	XP_011534284.1:p.Pro1110Ser
XM_011535983.1:c.3151C>T	XP_011534285.1:p.Pro1051Ser
NM_001029884.2:c.3151C>T	NP_001025055.1:p.Pro1051Ser
NM_001329798.1:c.3328C>T	NP_001316727.1:p.Pro1110Ser
NM_001329799.1:c.3271C>T	NP_001316728.1:p.Pro1091Ser
NM_001329800.1:c.3151C>T	NP_001316729.1:p.Pro1051Ser
NM_001329801.1:c.3151C>T	NP_001316730.1:p.Pro1051Ser
NM_001329802.1:c.3112C>T	NP_001316731.1:p.Pro1038Ser
NM_001329803.1:c.3034C>T	NP_001316732.1:p.Pro1012Ser
NM_001329804.1:c.1617-1146C>T	NP_001316733.1:n.1617-1146C>T
NM_001329805.1:c.1617-1146C>T	NP_001316734.1:n.1617-1146C>T
NM_001329806.1:c.1617-1146C>T	NP_001316735.1:n.1617-1146C>T
NM_001029884.3:c.3151C>T MANE Select	NP_001025055.1:p.Pro1051Ser
NM_001329798.2:c.3328C>T	NP_001316727.1:p.Pro1110Ser
NM_001329799.2:c.3271C>T	NP_001316728.1:p.Pro1091Ser
NM_001329800.2:c.3151C>T	NP_001316729.1:p.Pro1051Ser
NM_001329801.2:c.3151C>T	NP_001316730.1:p.Pro1051Ser
NM_001329802.2:c.3112C>T	NP_001316731.1:p.Pro1038Ser
NM_001329803.2:c.3034C>T	NP_001316732.1:p.Pro1012Ser
NM_001329804.2:c.1617-1146C>T	NP_001316733.1:n.1617-1146C>T
NM_001329805.2:c.1617-1146C>T	NP_001316734.1:n.1617-1146C>T
NM_001329806.2:c.1617-1146C>T	NP_001316735.1:n.1617-1146C>T