Canonical Allele Identifier: CA293431

Gene: SCO1

Linked Data

• ClinVar Variation Id: 139078
• ClinVar RCV Id: RCV000128008 ; RCV000224328 ; RCV000273401 ; RCV000330754
• dbSNP Id: rs61753148
• ExAC: 17:10600809 G / C
• gnomAD v2: 17-10600809-G-C
• gnomAD v3: 17-10697492-G-C
• gnomAD v4: 17-10697492-G-C
• MyVariant Identifiers: chr17:g.10600809G>C (hg19) ; chr17:g.10697492G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.10697492G>C , CM000679.2:g.10697492G>C	GRCh38
NC_000017.10:g.10600809G>C , CM000679.1:g.10600809G>C	GRCh37
NC_000017.9:g.10541534G>C	NCBI36
NG_008228.2:g.5077C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255390.10:c.16C>G MANE Select	ENSP00000255390.5:p.Leu6Val
ENST00000577335.2:c.16C>G	ENSP00000464032.1:p.Leu6Val
ENST00000255390.9:c.16C>G	ENSP00000255390.5:p.Leu6Val
ENST00000577335.1:c.16C>G	ENSP00000464032.1:p.Leu6Val
ENST00000577427.1:c.16C>G	ENSP00000463387.1:p.Leu6Val
ENST00000579396.1:n.36C>G
ENST00000582053.1:n.436+448C>G
NM_004589.3:c.16C>G	NP_004580.1:p.Leu6Val
XM_005256751.2:c.-321C>G	XP_005256808.1:n.-321C>G
XM_005256751.4:c.-321C>G	XP_005256808.1:n.-321C>G
NM_004589.4:c.16C>G MANE Select	NP_004580.1:p.Leu6Val