Canonical Allele Identifier: CA365171241

Gene: SOBP

Linked Data

• gnomAD v4: 6-107634609-C-A
• MyVariant Identifiers: chr6:g.107955813C>A (hg19) ; chr6:g.107634609C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.107634609C>A , CM000668.2:g.107634609C>A	GRCh38
NC_000006.11:g.107955813C>A , CM000668.1:g.107955813C>A	GRCh37
NC_000006.10:g.108062506C>A	NCBI36
NG_028200.1:g.149497C>A
NG_028200.2:g.149497C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317357.10:c.1765C>A MANE Select	ENSP00000318900.5:p.Gln589Lys
ENST00000317357.9:c.1765C>A	ENSP00000318900.5:p.Gln589Lys
NM_018013.3:c.1765C>A	NP_060483.3:p.Gln589Lys
XM_005267041.3:c.1918C>A	XP_005267098.1:p.Gln640Lys
XM_005267042.3:c.1822C>A	XP_005267099.1:p.Gln608Lys
XM_011535920.1:c.1918C>A	XP_011534222.1:p.Gln640Lys
XM_011535921.1:c.1804C>A	XP_011534223.1:p.Gln602Lys
XM_011535922.1:c.1177C>A	XP_011534224.1:p.Gln393Lys
XM_011535923.1:c.988C>A	XP_011534225.1:p.Gln330Lys
XM_005267041.4:c.1918C>A	XP_005267098.1:p.Gln640Lys
XM_005267042.4:c.1822C>A	XP_005267099.1:p.Gln608Lys
XM_011535920.2:c.1918C>A	XP_011534222.1:p.Gln640Lys
XM_011535921.2:c.1804C>A	XP_011534223.1:p.Gln602Lys
XM_011535923.2:c.988C>A	XP_011534225.1:p.Gln330Lys
XM_017010991.1:c.1318C>A	XP_016866480.1:p.Gln440Lys
XM_017010992.1:c.1318C>A	XP_016866481.1:p.Gln440Lys
XM_017010993.1:c.1318C>A	XP_016866482.1:p.Gln440Lys
XM_017010994.1:c.1318C>A	XP_016866483.1:p.Gln440Lys
NM_018013.4:c.1765C>A MANE Select	NP_060483.3:p.Gln589Lys