Canonical Allele Identifier: CA8393457

Gene: SCO1

Linked Data

• ClinVar Variation Id: 321791
• ClinVar RCV Id: RCV000265637 ; RCV000324448 ; RCV002061215 ; RCV003137923
• dbSNP Id: rs139771078
• ExAC: 17:10584474 T / C
• gnomAD v2: 17-10584474-T-C
• gnomAD v3: 17-10681157-T-C
• gnomAD v4: 17-10681157-T-C
• MyVariant Identifiers: chr17:g.10584474T>C (hg19) ; chr17:g.10681157T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.10681157T>C , CM000679.2:g.10681157T>C	GRCh38
NC_000017.10:g.10584474T>C , CM000679.1:g.10584474T>C	GRCh37
NC_000017.9:g.10525199T>C	NCBI36
NG_008228.2:g.21412A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255390.10:c.868A>G MANE Select	ENSP00000255390.5:p.Ile290Val
ENST00000577335.2:c.*690A>G	ENSP00000464032.1:n.*690A>G
ENST00000255390.9:c.868A>G	ENSP00000255390.5:p.Ile290Val
ENST00000577427.1:c.775A>G	ENSP00000463387.1:p.Ile259Val
NM_004589.3:c.868A>G	NP_004580.1:p.Ile290Val
XM_005256751.2:c.535A>G	XP_005256808.1:p.Ile179Val
XM_005256751.4:c.535A>G	XP_005256808.1:p.Ile179Val
NM_004589.4:c.868A>G MANE Select	NP_004580.1:p.Ile290Val