Canonical Allele Identifier: CA365171910

Gene: SOBP

Linked Data

• ClinVar Variation Id: 3167384
• ClinVar RCV Id: RCV004464749
• dbSNP Id: rs1770945731
• gnomAD v3: 6-107634930-G-A
• gnomAD v4: 6-107634930-G-A
• MyVariant Identifiers: chr6:g.107956134G>A (hg19) ; chr6:g.107634930G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.107634930G>A , CM000668.2:g.107634930G>A	GRCh38
NC_000006.11:g.107956134G>A , CM000668.1:g.107956134G>A	GRCh37
NC_000006.10:g.108062827G>A	NCBI36
NG_028200.1:g.149818G>A
NG_028200.2:g.149818G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317357.10:c.2086G>A MANE Select	ENSP00000318900.5:p.Gly696Ser
ENST00000317357.9:c.2086G>A	ENSP00000318900.5:p.Gly696Ser
NM_018013.3:c.2086G>A	NP_060483.3:p.Gly696Ser
XM_005267041.3:c.2239G>A	XP_005267098.1:p.Gly747Ser
XM_005267042.3:c.2143G>A	XP_005267099.1:p.Gly715Ser
XM_011535920.1:c.2239G>A	XP_011534222.1:p.Gly747Ser
XM_011535921.1:c.2125G>A	XP_011534223.1:p.Gly709Ser
XM_011535922.1:c.1498G>A	XP_011534224.1:p.Gly500Ser
XM_011535923.1:c.1309G>A	XP_011534225.1:p.Gly437Ser
XM_005267041.4:c.2239G>A	XP_005267098.1:p.Gly747Ser
XM_005267042.4:c.2143G>A	XP_005267099.1:p.Gly715Ser
XM_011535920.2:c.2239G>A	XP_011534222.1:p.Gly747Ser
XM_011535921.2:c.2125G>A	XP_011534223.1:p.Gly709Ser
XM_011535923.2:c.1309G>A	XP_011534225.1:p.Gly437Ser
XM_017010991.1:c.1639G>A	XP_016866480.1:p.Gly547Ser
XM_017010992.1:c.1639G>A	XP_016866481.1:p.Gly547Ser
XM_017010993.1:c.1639G>A	XP_016866482.1:p.Gly547Ser
XM_017010994.1:c.1639G>A	XP_016866483.1:p.Gly547Ser
NM_018013.4:c.2086G>A MANE Select	NP_060483.3:p.Gly696Ser