Canonical Allele Identifier: CA3946589

Gene: SOBP

Linked Data

• ClinVar Variation Id: 730166
• ClinVar RCV Id: RCV000904934
• dbSNP Id: rs774760681
• ExAC: 6:107955845 C / T
• gnomAD v2: 6-107955845-C-T
• gnomAD v3: 6-107634641-C-T
• gnomAD v4: 6-107634641-C-T
• MyVariant Identifiers: chr6:g.107955845C>T (hg19) ; chr6:g.107634641C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.107634641C>T , CM000668.2:g.107634641C>T	GRCh38
NC_000006.11:g.107955845C>T , CM000668.1:g.107955845C>T	GRCh37
NC_000006.10:g.108062538C>T	NCBI36
NG_028200.1:g.149529C>T
NG_028200.2:g.149529C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317357.10:c.1797C>T MANE Select	ENSP00000318900.5:p.Pro599=
ENST00000317357.9:c.1797C>T	ENSP00000318900.5:p.Pro599=
NM_018013.3:c.1797C>T	NP_060483.3:p.Pro599=
XM_005267041.3:c.1950C>T	XP_005267098.1:p.Pro650=
XM_005267042.3:c.1854C>T	XP_005267099.1:p.Pro618=
XM_011535920.1:c.1950C>T	XP_011534222.1:p.Pro650=
XM_011535921.1:c.1836C>T	XP_011534223.1:p.Pro612=
XM_011535922.1:c.1209C>T	XP_011534224.1:p.Pro403=
XM_011535923.1:c.1020C>T	XP_011534225.1:p.Pro340=
XM_005267041.4:c.1950C>T	XP_005267098.1:p.Pro650=
XM_005267042.4:c.1854C>T	XP_005267099.1:p.Pro618=
XM_011535920.2:c.1950C>T	XP_011534222.1:p.Pro650=
XM_011535921.2:c.1836C>T	XP_011534223.1:p.Pro612=
XM_011535923.2:c.1020C>T	XP_011534225.1:p.Pro340=
XM_017010991.1:c.1350C>T	XP_016866480.1:p.Pro450=
XM_017010992.1:c.1350C>T	XP_016866481.1:p.Pro450=
XM_017010993.1:c.1350C>T	XP_016866482.1:p.Pro450=
XM_017010994.1:c.1350C>T	XP_016866483.1:p.Pro450=
NM_018013.4:c.1797C>T MANE Select	NP_060483.3:p.Pro599=