Canonical Allele Identifier: CA365171293

Gene: SOBP

Linked Data

• ClinVar Variation Id: 2239321
• ClinVar RCV Id: RCV004105001
• MyVariant Identifiers: chr6:g.107955836C>G (hg19) ; chr6:g.107634632C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.107634632C>G , CM000668.2:g.107634632C>G	GRCh38
NC_000006.11:g.107955836C>G , CM000668.1:g.107955836C>G	GRCh37
NC_000006.10:g.108062529C>G	NCBI36
NG_028200.1:g.149520C>G
NG_028200.2:g.149520C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317357.10:c.1788C>G MANE Select	ENSP00000318900.5:p.Asp596Glu
ENST00000317357.9:c.1788C>G	ENSP00000318900.5:p.Asp596Glu
NM_018013.3:c.1788C>G	NP_060483.3:p.Asp596Glu
XM_005267041.3:c.1941C>G	XP_005267098.1:p.Asp647Glu
XM_005267042.3:c.1845C>G	XP_005267099.1:p.Asp615Glu
XM_011535920.1:c.1941C>G	XP_011534222.1:p.Asp647Glu
XM_011535921.1:c.1827C>G	XP_011534223.1:p.Asp609Glu
XM_011535922.1:c.1200C>G	XP_011534224.1:p.Asp400Glu
XM_011535923.1:c.1011C>G	XP_011534225.1:p.Asp337Glu
XM_005267041.4:c.1941C>G	XP_005267098.1:p.Asp647Glu
XM_005267042.4:c.1845C>G	XP_005267099.1:p.Asp615Glu
XM_011535920.2:c.1941C>G	XP_011534222.1:p.Asp647Glu
XM_011535921.2:c.1827C>G	XP_011534223.1:p.Asp609Glu
XM_011535923.2:c.1011C>G	XP_011534225.1:p.Asp337Glu
XM_017010991.1:c.1341C>G	XP_016866480.1:p.Asp447Glu
XM_017010992.1:c.1341C>G	XP_016866481.1:p.Asp447Glu
XM_017010993.1:c.1341C>G	XP_016866482.1:p.Asp447Glu
XM_017010994.1:c.1341C>G	XP_016866483.1:p.Asp447Glu
NM_018013.4:c.1788C>G MANE Select	NP_060483.3:p.Asp596Glu