Canonical Allele Identifier: CA365170483

Gene: SOBP

Linked Data

• gnomAD v3: 6-107634472-T-G
• gnomAD v4: 6-107634472-T-G
• MyVariant Identifiers: chr6:g.107955676T>G (hg19) ; chr6:g.107634472T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.107634472T>G , CM000668.2:g.107634472T>G	GRCh38
NC_000006.11:g.107955676T>G , CM000668.1:g.107955676T>G	GRCh37
NC_000006.10:g.108062369T>G	NCBI36
NG_028200.1:g.149360T>G
NG_028200.2:g.149360T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317357.10:c.1628T>G MANE Select	ENSP00000318900.5:p.Ile543Ser
ENST00000317357.9:c.1628T>G	ENSP00000318900.5:p.Ile543Ser
NM_018013.3:c.1628T>G	NP_060483.3:p.Ile543Ser
XM_005267041.3:c.1781T>G	XP_005267098.1:p.Ile594Ser
XM_005267042.3:c.1685T>G	XP_005267099.1:p.Ile562Ser
XM_011535920.1:c.1781T>G	XP_011534222.1:p.Ile594Ser
XM_011535921.1:c.1667T>G	XP_011534223.1:p.Ile556Ser
XM_011535922.1:c.1040T>G	XP_011534224.1:p.Ile347Ser
XM_011535923.1:c.851T>G	XP_011534225.1:p.Ile284Ser
XM_005267041.4:c.1781T>G	XP_005267098.1:p.Ile594Ser
XM_005267042.4:c.1685T>G	XP_005267099.1:p.Ile562Ser
XM_011535920.2:c.1781T>G	XP_011534222.1:p.Ile594Ser
XM_011535921.2:c.1667T>G	XP_011534223.1:p.Ile556Ser
XM_011535923.2:c.851T>G	XP_011534225.1:p.Ile284Ser
XM_017010991.1:c.1181T>G	XP_016866480.1:p.Ile394Ser
XM_017010992.1:c.1181T>G	XP_016866481.1:p.Ile394Ser
XM_017010993.1:c.1181T>G	XP_016866482.1:p.Ile394Ser
XM_017010994.1:c.1181T>G	XP_016866483.1:p.Ile394Ser
NM_018013.4:c.1628T>G MANE Select	NP_060483.3:p.Ile543Ser