Canonical Allele Identifier: CA365171318

Gene: SOBP

Linked Data

• gnomAD v4: 6-107634645-T-C
• MyVariant Identifiers: chr6:g.107955849T>C (hg19) ; chr6:g.107634645T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.107634645T>C , CM000668.2:g.107634645T>C	GRCh38
NC_000006.11:g.107955849T>C , CM000668.1:g.107955849T>C	GRCh37
NC_000006.10:g.108062542T>C	NCBI36
NG_028200.1:g.149533T>C
NG_028200.2:g.149533T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317357.10:c.1801T>C MANE Select	ENSP00000318900.5:p.Cys601Arg
ENST00000317357.9:c.1801T>C	ENSP00000318900.5:p.Cys601Arg
NM_018013.3:c.1801T>C	NP_060483.3:p.Cys601Arg
XM_005267041.3:c.1954T>C	XP_005267098.1:p.Cys652Arg
XM_005267042.3:c.1858T>C	XP_005267099.1:p.Cys620Arg
XM_011535920.1:c.1954T>C	XP_011534222.1:p.Cys652Arg
XM_011535921.1:c.1840T>C	XP_011534223.1:p.Cys614Arg
XM_011535922.1:c.1213T>C	XP_011534224.1:p.Cys405Arg
XM_011535923.1:c.1024T>C	XP_011534225.1:p.Cys342Arg
XM_005267041.4:c.1954T>C	XP_005267098.1:p.Cys652Arg
XM_005267042.4:c.1858T>C	XP_005267099.1:p.Cys620Arg
XM_011535920.2:c.1954T>C	XP_011534222.1:p.Cys652Arg
XM_011535921.2:c.1840T>C	XP_011534223.1:p.Cys614Arg
XM_011535923.2:c.1024T>C	XP_011534225.1:p.Cys342Arg
XM_017010991.1:c.1354T>C	XP_016866480.1:p.Cys452Arg
XM_017010992.1:c.1354T>C	XP_016866481.1:p.Cys452Arg
XM_017010993.1:c.1354T>C	XP_016866482.1:p.Cys452Arg
XM_017010994.1:c.1354T>C	XP_016866483.1:p.Cys452Arg
NM_018013.4:c.1801T>C MANE Select	NP_060483.3:p.Cys601Arg