Canonical Allele Identifier: CA3946553

Gene: SOBP

Linked Data

• dbSNP Id: rs762430646
• ExAC: 6:107955688 G / A
• gnomAD v2: 6-107955688-G-A
• gnomAD v3: 6-107634484-G-A
• gnomAD v4: 6-107634484-G-A
• MyVariant Identifiers: chr6:g.107955688G>A (hg19) ; chr6:g.107634484G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.107634484G>A , CM000668.2:g.107634484G>A	GRCh38
NC_000006.11:g.107955688G>A , CM000668.1:g.107955688G>A	GRCh37
NC_000006.10:g.108062381G>A	NCBI36
NG_028200.1:g.149372G>A
NG_028200.2:g.149372G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317357.10:c.1640G>A MANE Select	ENSP00000318900.5:p.Ser547Asn
ENST00000317357.9:c.1640G>A	ENSP00000318900.5:p.Ser547Asn
NM_018013.3:c.1640G>A	NP_060483.3:p.Ser547Asn
XM_005267041.3:c.1793G>A	XP_005267098.1:p.Ser598Asn
XM_005267042.3:c.1697G>A	XP_005267099.1:p.Ser566Asn
XM_011535920.1:c.1793G>A	XP_011534222.1:p.Ser598Asn
XM_011535921.1:c.1679G>A	XP_011534223.1:p.Ser560Asn
XM_011535922.1:c.1052G>A	XP_011534224.1:p.Ser351Asn
XM_011535923.1:c.863G>A	XP_011534225.1:p.Ser288Asn
XM_005267041.4:c.1793G>A	XP_005267098.1:p.Ser598Asn
XM_005267042.4:c.1697G>A	XP_005267099.1:p.Ser566Asn
XM_011535920.2:c.1793G>A	XP_011534222.1:p.Ser598Asn
XM_011535921.2:c.1679G>A	XP_011534223.1:p.Ser560Asn
XM_011535923.2:c.863G>A	XP_011534225.1:p.Ser288Asn
XM_017010991.1:c.1193G>A	XP_016866480.1:p.Ser398Asn
XM_017010992.1:c.1193G>A	XP_016866481.1:p.Ser398Asn
XM_017010993.1:c.1193G>A	XP_016866482.1:p.Ser398Asn
XM_017010994.1:c.1193G>A	XP_016866483.1:p.Ser398Asn
NM_018013.4:c.1640G>A MANE Select	NP_060483.3:p.Ser547Asn