Canonical Allele Identifier: CA3946577

Gene: SOBP

Linked Data

• dbSNP Id: rs764045698
• ExAC: 6:107955796 C / G
• gnomAD v2: 6-107955796-C-G
• gnomAD v3: 6-107634592-C-G
• gnomAD v4: 6-107634592-C-G
• MyVariant Identifiers: chr6:g.107955796C>G (hg19) ; chr6:g.107634592C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.107634592C>G , CM000668.2:g.107634592C>G	GRCh38
NC_000006.11:g.107955796C>G , CM000668.1:g.107955796C>G	GRCh37
NC_000006.10:g.108062489C>G	NCBI36
NG_028200.1:g.149480C>G
NG_028200.2:g.149480C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317357.10:c.1748C>G MANE Select	ENSP00000318900.5:p.Ser583Cys
ENST00000317357.9:c.1748C>G	ENSP00000318900.5:p.Ser583Cys
NM_018013.3:c.1748C>G	NP_060483.3:p.Ser583Cys
XM_005267041.3:c.1901C>G	XP_005267098.1:p.Ser634Cys
XM_005267042.3:c.1805C>G	XP_005267099.1:p.Ser602Cys
XM_011535920.1:c.1901C>G	XP_011534222.1:p.Ser634Cys
XM_011535921.1:c.1787C>G	XP_011534223.1:p.Ser596Cys
XM_011535922.1:c.1160C>G	XP_011534224.1:p.Ser387Cys
XM_011535923.1:c.971C>G	XP_011534225.1:p.Ser324Cys
XM_005267041.4:c.1901C>G	XP_005267098.1:p.Ser634Cys
XM_005267042.4:c.1805C>G	XP_005267099.1:p.Ser602Cys
XM_011535920.2:c.1901C>G	XP_011534222.1:p.Ser634Cys
XM_011535921.2:c.1787C>G	XP_011534223.1:p.Ser596Cys
XM_011535923.2:c.971C>G	XP_011534225.1:p.Ser324Cys
XM_017010991.1:c.1301C>G	XP_016866480.1:p.Ser434Cys
XM_017010992.1:c.1301C>G	XP_016866481.1:p.Ser434Cys
XM_017010993.1:c.1301C>G	XP_016866482.1:p.Ser434Cys
XM_017010994.1:c.1301C>G	XP_016866483.1:p.Ser434Cys
NM_018013.4:c.1748C>G MANE Select	NP_060483.3:p.Ser583Cys