Canonical Allele Identifier: CA365171954

Gene: SOBP

Linked Data

• ClinVar Variation Id: 436831
• ClinVar RCV Id: RCV000500238
• dbSNP Id: rs1554190937
• gnomAD v4: 6-107634949-C-T
• MyVariant Identifiers: chr6:g.107956153C>T (hg19) ; chr6:g.107634949C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.107634949C>T , CM000668.2:g.107634949C>T	GRCh38
NC_000006.11:g.107956153C>T , CM000668.1:g.107956153C>T	GRCh37
NC_000006.10:g.108062846C>T	NCBI36
NG_028200.1:g.149837C>T
NG_028200.2:g.149837C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317357.10:c.2105C>T MANE Select	ENSP00000318900.5:p.Ala702Val
ENST00000317357.9:c.2105C>T	ENSP00000318900.5:p.Ala702Val
NM_018013.3:c.2105C>T	NP_060483.3:p.Ala702Val
XM_005267041.3:c.2258C>T	XP_005267098.1:p.Ala753Val
XM_005267042.3:c.2162C>T	XP_005267099.1:p.Ala721Val
XM_011535920.1:c.2258C>T	XP_011534222.1:p.Ala753Val
XM_011535921.1:c.2144C>T	XP_011534223.1:p.Ala715Val
XM_011535922.1:c.1517C>T	XP_011534224.1:p.Ala506Val
XM_011535923.1:c.1328C>T	XP_011534225.1:p.Ala443Val
XM_005267041.4:c.2258C>T	XP_005267098.1:p.Ala753Val
XM_005267042.4:c.2162C>T	XP_005267099.1:p.Ala721Val
XM_011535920.2:c.2258C>T	XP_011534222.1:p.Ala753Val
XM_011535921.2:c.2144C>T	XP_011534223.1:p.Ala715Val
XM_011535923.2:c.1328C>T	XP_011534225.1:p.Ala443Val
XM_017010991.1:c.1658C>T	XP_016866480.1:p.Ala553Val
XM_017010992.1:c.1658C>T	XP_016866481.1:p.Ala553Val
XM_017010993.1:c.1658C>T	XP_016866482.1:p.Ala553Val
XM_017010994.1:c.1658C>T	XP_016866483.1:p.Ala553Val
NM_018013.4:c.2105C>T MANE Select	NP_060483.3:p.Ala702Val