Canonical Allele Identifier: CA8393677

Gene: SCO1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.10697249G>A , CM000679.2:g.10697249G>A	GRCh38
NC_000017.10:g.10600566G>A , CM000679.1:g.10600566G>A	GRCh37
NC_000017.9:g.10541291G>A	NCBI36
NG_008228.2:g.5320C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004589.4:c.259C>T MANE Select	NP_004580.1:p.Pro87Ser
ENST00000255390.10:c.259C>T MANE Select	ENSP00000255390.5:p.Pro87Ser
NM_004589.3:c.259C>T	NP_004580.1:p.Pro87Ser
ENST00000255390.9:c.259C>T	ENSP00000255390.5:p.Pro87Ser
ENST00000577335.1:c.259C>T	ENSP00000464032.1:p.Pro87Ser
ENST00000577335.2:c.259C>T	ENSP00000464032.1:p.Pro87Ser
ENST00000577427.1:c.259C>T	ENSP00000463387.1:p.Pro87Ser
ENST00000579396.1:n.279C>T
ENST00000582053.1:n.436+691C>T
XM_005256751.2:c.-78C>T	XP_005256808.1:n.-78C>T
XM_005256751.4:c.-78C>T	XP_005256808.1:n.-78C>T