Canonical Allele Identifier: CA2130209
Community Standard Title: NM_015311.3(OBSL1):c.5487G>A (p.Glu1829=)
Gene: OBSL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219551725C>T , CM000664.2:g.219551725C>T GRCh38
NC_000002.11:g.220416447C>T , CM000664.1:g.220416447C>T GRCh37
NC_000002.10:g.220124691C>T NCBI36
NG_016977.1:g.24822G>A

Transcript Alleles

HGVS Amino-acid Change
NM_015311.3:c.5487G>A MANE Select NP_056126.1:p.Glu1829=
ENST00000404537.6:c.5487G>A MANE Select ENSP00000385636.1:p.Glu1829=
NM_015311.2:c.5487G>A NP_056126.1:p.Glu1829=
ENST00000373876.5:c.5211G>A ENSP00000362983.1:p.Glu1737=
ENST00000404537.5:c.5487G>A ENSP00000385636.1:p.Glu1829=
ENST00000462534.5:n.352G>A
ENST00000465149.1:n.4384G>A
ENST00000489804.5:n.358G>A
XM_005246424.3:c.5211G>A XP_005246481.1:p.Glu1737=
XM_011510854.1:c.5544G>A XP_011509156.1:p.Glu1848=
XM_011510855.1:c.5544G>A XP_011509157.1:p.Glu1848=
XM_011510856.1:c.5544G>A XP_011509158.1:p.Glu1848=
XM_011510857.1:c.5487G>A XP_011509159.1:p.Glu1829=
XM_011510857.2:c.5487G>A XP_011509159.1:p.Glu1829=
XM_011510858.1:c.5544G>A XP_011509160.1:p.Glu1848=
XM_011510859.1:c.5268G>A XP_011509161.1:p.Glu1756=
XM_011510860.1:c.5268G>A XP_011509162.1:p.Glu1756=
XM_011510861.1:c.4992G>A XP_011509163.1:p.Glu1664=
XM_017003696.2:c.5487G>A XP_016859185.1:p.Glu1829=
XM_017003697.2:c.5487G>A XP_016859186.1:p.Glu1829=
XM_017003698.1:c.5211G>A XP_016859187.1:p.Glu1737=
XM_017003699.1:c.5211G>A XP_016859188.1:p.Glu1737=
XM_017003700.1:c.4935G>A XP_016859189.1:p.Glu1645=