Canonical Allele Identifier: CA365170666

Gene: SOBP

Linked Data

• dbSNP Id: rs1225740272
• gnomAD v2: 6-107955697-A-G
• gnomAD v3: 6-107634493-A-G
• gnomAD v4: 6-107634493-A-G
• MyVariant Identifiers: chr6:g.107955697A>G (hg19) ; chr6:g.107634493A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.107634493A>G , CM000668.2:g.107634493A>G	GRCh38
NC_000006.11:g.107955697A>G , CM000668.1:g.107955697A>G	GRCh37
NC_000006.10:g.108062390A>G	NCBI36
NG_028200.1:g.149381A>G
NG_028200.2:g.149381A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317357.10:c.1649A>G MANE Select	ENSP00000318900.5:p.Lys550Arg
ENST00000317357.9:c.1649A>G	ENSP00000318900.5:p.Lys550Arg
NM_018013.3:c.1649A>G	NP_060483.3:p.Lys550Arg
XM_005267041.3:c.1802A>G	XP_005267098.1:p.Lys601Arg
XM_005267042.3:c.1706A>G	XP_005267099.1:p.Lys569Arg
XM_011535920.1:c.1802A>G	XP_011534222.1:p.Lys601Arg
XM_011535921.1:c.1688A>G	XP_011534223.1:p.Lys563Arg
XM_011535922.1:c.1061A>G	XP_011534224.1:p.Lys354Arg
XM_011535923.1:c.872A>G	XP_011534225.1:p.Lys291Arg
XM_005267041.4:c.1802A>G	XP_005267098.1:p.Lys601Arg
XM_005267042.4:c.1706A>G	XP_005267099.1:p.Lys569Arg
XM_011535920.2:c.1802A>G	XP_011534222.1:p.Lys601Arg
XM_011535921.2:c.1688A>G	XP_011534223.1:p.Lys563Arg
XM_011535923.2:c.872A>G	XP_011534225.1:p.Lys291Arg
XM_017010991.1:c.1202A>G	XP_016866480.1:p.Lys401Arg
XM_017010992.1:c.1202A>G	XP_016866481.1:p.Lys401Arg
XM_017010993.1:c.1202A>G	XP_016866482.1:p.Lys401Arg
XM_017010994.1:c.1202A>G	XP_016866483.1:p.Lys401Arg
NM_018013.4:c.1649A>G MANE Select	NP_060483.3:p.Lys550Arg