Canonical Allele Identifier: CA155266

Gene: SOBP

Linked Data

• ClinVar Variation Id: 130360
• ClinVar RCV Id: RCV000118398 ; RCV000427101
• dbSNP Id: rs146747167
• ExAC: 6:107955663 A / G
• gnomAD v2: 6-107955663-A-G
• gnomAD v3: 6-107634459-A-G
• gnomAD v4: 6-107634459-A-G
• MyVariant Identifiers: chr6:g.107955663A>G (hg19) ; chr6:g.107634459A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.107634459A>G , CM000668.2:g.107634459A>G	GRCh38
NC_000006.11:g.107955663A>G , CM000668.1:g.107955663A>G	GRCh37
NC_000006.10:g.108062356A>G	NCBI36
NG_028200.1:g.149347A>G
NG_028200.2:g.149347A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317357.10:c.1615A>G MANE Select	ENSP00000318900.5:p.Ile539Val
ENST00000317357.9:c.1615A>G	ENSP00000318900.5:p.Ile539Val
NM_018013.3:c.1615A>G	NP_060483.3:p.Ile539Val
XM_005267041.3:c.1768A>G	XP_005267098.1:p.Ile590Val
XM_005267042.3:c.1672A>G	XP_005267099.1:p.Ile558Val
XM_011535920.1:c.1768A>G	XP_011534222.1:p.Ile590Val
XM_011535921.1:c.1654A>G	XP_011534223.1:p.Ile552Val
XM_011535922.1:c.1027A>G	XP_011534224.1:p.Ile343Val
XM_011535923.1:c.838A>G	XP_011534225.1:p.Ile280Val
XM_005267041.4:c.1768A>G	XP_005267098.1:p.Ile590Val
XM_005267042.4:c.1672A>G	XP_005267099.1:p.Ile558Val
XM_011535920.2:c.1768A>G	XP_011534222.1:p.Ile590Val
XM_011535921.2:c.1654A>G	XP_011534223.1:p.Ile552Val
XM_011535923.2:c.838A>G	XP_011534225.1:p.Ile280Val
XM_017010991.1:c.1168A>G	XP_016866480.1:p.Ile390Val
XM_017010992.1:c.1168A>G	XP_016866481.1:p.Ile390Val
XM_017010993.1:c.1168A>G	XP_016866482.1:p.Ile390Val
XM_017010994.1:c.1168A>G	XP_016866483.1:p.Ile390Val
NM_018013.4:c.1615A>G MANE Select	NP_060483.3:p.Ile539Val