Canonical Allele Identifier: CA293431
Gene: SCO1 HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.10697492G>C
GRCh37 chr17:g.10600809G>C
Revel Score:
ENST00000255390 (MANE Select) 0.134
ENST00000396047 0.134
gnomAD v2:
17:10600809 G / C
gnomAD v3:
17:10697492 G / C
gnomAD v4:
chr17-10697492-G-C
Joint Max Group AF 0.00749449 (NFE)
Genomes Max Group AF 0.00589871 (NFE)
Exomes Max Group AF 0.00756554 (NFE)
JSON-LD

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
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