Canonical Allele Identifier: CA365171217

Gene: SOBP

Linked Data

• ClinVar Variation Id: 2527817
• ClinVar RCV Id: RCV004301081
• gnomAD v4: 6-107634597-C-T
• MyVariant Identifiers: chr6:g.107955801C>T (hg19) ; chr6:g.107634597C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.107634597C>T , CM000668.2:g.107634597C>T	GRCh38
NC_000006.11:g.107955801C>T , CM000668.1:g.107955801C>T	GRCh37
NC_000006.10:g.108062494C>T	NCBI36
NG_028200.1:g.149485C>T
NG_028200.2:g.149485C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317357.10:c.1753C>T MANE Select	ENSP00000318900.5:p.Arg585Trp
ENST00000317357.9:c.1753C>T	ENSP00000318900.5:p.Arg585Trp
NM_018013.3:c.1753C>T	NP_060483.3:p.Arg585Trp
XM_005267041.3:c.1906C>T	XP_005267098.1:p.Arg636Trp
XM_005267042.3:c.1810C>T	XP_005267099.1:p.Arg604Trp
XM_011535920.1:c.1906C>T	XP_011534222.1:p.Arg636Trp
XM_011535921.1:c.1792C>T	XP_011534223.1:p.Arg598Trp
XM_011535922.1:c.1165C>T	XP_011534224.1:p.Arg389Trp
XM_011535923.1:c.976C>T	XP_011534225.1:p.Arg326Trp
XM_005267041.4:c.1906C>T	XP_005267098.1:p.Arg636Trp
XM_005267042.4:c.1810C>T	XP_005267099.1:p.Arg604Trp
XM_011535920.2:c.1906C>T	XP_011534222.1:p.Arg636Trp
XM_011535921.2:c.1792C>T	XP_011534223.1:p.Arg598Trp
XM_011535923.2:c.976C>T	XP_011534225.1:p.Arg326Trp
XM_017010991.1:c.1306C>T	XP_016866480.1:p.Arg436Trp
XM_017010992.1:c.1306C>T	XP_016866481.1:p.Arg436Trp
XM_017010993.1:c.1306C>T	XP_016866482.1:p.Arg436Trp
XM_017010994.1:c.1306C>T	XP_016866483.1:p.Arg436Trp
NM_018013.4:c.1753C>T MANE Select	NP_060483.3:p.Arg585Trp