Canonical Allele Identifier: CA365170386

Gene: SOBP

Linked Data

• gnomAD v4: 6-107634460-T-C
• MyVariant Identifiers: chr6:g.107955664T>C (hg19) ; chr6:g.107634460T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.107634460T>C , CM000668.2:g.107634460T>C	GRCh38
NC_000006.11:g.107955664T>C , CM000668.1:g.107955664T>C	GRCh37
NC_000006.10:g.108062357T>C	NCBI36
NG_028200.1:g.149348T>C
NG_028200.2:g.149348T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317357.10:c.1616T>C MANE Select	ENSP00000318900.5:p.Ile539Thr
ENST00000317357.9:c.1616T>C	ENSP00000318900.5:p.Ile539Thr
NM_018013.3:c.1616T>C	NP_060483.3:p.Ile539Thr
XM_005267041.3:c.1769T>C	XP_005267098.1:p.Ile590Thr
XM_005267042.3:c.1673T>C	XP_005267099.1:p.Ile558Thr
XM_011535920.1:c.1769T>C	XP_011534222.1:p.Ile590Thr
XM_011535921.1:c.1655T>C	XP_011534223.1:p.Ile552Thr
XM_011535922.1:c.1028T>C	XP_011534224.1:p.Ile343Thr
XM_011535923.1:c.839T>C	XP_011534225.1:p.Ile280Thr
XM_005267041.4:c.1769T>C	XP_005267098.1:p.Ile590Thr
XM_005267042.4:c.1673T>C	XP_005267099.1:p.Ile558Thr
XM_011535920.2:c.1769T>C	XP_011534222.1:p.Ile590Thr
XM_011535921.2:c.1655T>C	XP_011534223.1:p.Ile552Thr
XM_011535923.2:c.839T>C	XP_011534225.1:p.Ile280Thr
XM_017010991.1:c.1169T>C	XP_016866480.1:p.Ile390Thr
XM_017010992.1:c.1169T>C	XP_016866481.1:p.Ile390Thr
XM_017010993.1:c.1169T>C	XP_016866482.1:p.Ile390Thr
XM_017010994.1:c.1169T>C	XP_016866483.1:p.Ile390Thr
NM_018013.4:c.1616T>C MANE Select	NP_060483.3:p.Ile539Thr