Canonical Allele Identifier: CA8393600

Gene: SCO1

Linked Data

• ClinVar Variation Id: 511280
• ClinVar RCV Id: RCV001124449 ; RCV001124450 ; RCV001697873 ; RCV004544751
• dbSNP Id: rs371690301
• ExAC: 17:10596232 C / T
• gnomAD v2: 17-10596232-C-T
• gnomAD v3: 17-10692915-C-T
• gnomAD v4: 17-10692915-C-T
• MyVariant Identifiers: chr17:g.10596232C>T (hg19) ; chr17:g.10692915C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.10692915C>T , CM000679.2:g.10692915C>T	GRCh38
NC_000017.10:g.10596232C>T , CM000679.1:g.10596232C>T	GRCh37
NC_000017.9:g.10536957C>T	NCBI36
NG_008228.2:g.9654G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255390.10:c.411G>A MANE Select	ENSP00000255390.5:p.Gly137=
ENST00000577335.2:c.*138G>A	ENSP00000464032.1:n.*138G>A
ENST00000255390.9:c.411G>A	ENSP00000255390.5:p.Gly137=
ENST00000577335.1:c.*138G>A	ENSP00000464032.1:n.*138G>A
ENST00000577427.1:c.411G>A	ENSP00000463387.1:p.Gly137=
NM_004589.3:c.411G>A	NP_004580.1:p.Gly137=
XM_005256751.2:c.78G>A	XP_005256808.1:p.Gly26=
XM_005256751.4:c.78G>A	XP_005256808.1:p.Gly26=
NM_004589.4:c.411G>A MANE Select	NP_004580.1:p.Gly137=