Canonical Allele Identifier: CA365171262

Gene: SOBP

Linked Data

• gnomAD v4: 6-107634618-T-C
• MyVariant Identifiers: chr6:g.107955822T>C (hg19) ; chr6:g.107634618T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.107634618T>C , CM000668.2:g.107634618T>C	GRCh38
NC_000006.11:g.107955822T>C , CM000668.1:g.107955822T>C	GRCh37
NC_000006.10:g.108062515T>C	NCBI36
NG_028200.1:g.149506T>C
NG_028200.2:g.149506T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317357.10:c.1774T>C MANE Select	ENSP00000318900.5:p.Ser592Pro
ENST00000317357.9:c.1774T>C	ENSP00000318900.5:p.Ser592Pro
NM_018013.3:c.1774T>C	NP_060483.3:p.Ser592Pro
XM_005267041.3:c.1927T>C	XP_005267098.1:p.Ser643Pro
XM_005267042.3:c.1831T>C	XP_005267099.1:p.Ser611Pro
XM_011535920.1:c.1927T>C	XP_011534222.1:p.Ser643Pro
XM_011535921.1:c.1813T>C	XP_011534223.1:p.Ser605Pro
XM_011535922.1:c.1186T>C	XP_011534224.1:p.Ser396Pro
XM_011535923.1:c.997T>C	XP_011534225.1:p.Ser333Pro
XM_005267041.4:c.1927T>C	XP_005267098.1:p.Ser643Pro
XM_005267042.4:c.1831T>C	XP_005267099.1:p.Ser611Pro
XM_011535920.2:c.1927T>C	XP_011534222.1:p.Ser643Pro
XM_011535921.2:c.1813T>C	XP_011534223.1:p.Ser605Pro
XM_011535923.2:c.997T>C	XP_011534225.1:p.Ser333Pro
XM_017010991.1:c.1327T>C	XP_016866480.1:p.Ser443Pro
XM_017010992.1:c.1327T>C	XP_016866481.1:p.Ser443Pro
XM_017010993.1:c.1327T>C	XP_016866482.1:p.Ser443Pro
XM_017010994.1:c.1327T>C	XP_016866483.1:p.Ser443Pro
NM_018013.4:c.1774T>C MANE Select	NP_060483.3:p.Ser592Pro