Canonical Allele Identifier: CA350764391

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219570560G>T , CM000664.2:g.219570560G>T GRCh38
NC_000002.11:g.220435282G>T , CM000664.1:g.220435282G>T GRCh37
NC_000002.10:g.220143526G>T NCBI36
NG_016977.1:g.5987C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000404537.6:c.673C>A (OBSL1) MANE Select ENSP00000385636.1:p.Gln225Lys
ENST00000289656.3:c.-228+834C>A (OBSL1) ENSP00000289656.3:n.-228+834C>A
ENST00000373873.8:c.673C>A (OBSL1) ENSP00000362980.4:p.Gln225Lys
ENST00000373876.5:c.673C>A (OBSL1) ENSP00000362983.1:p.Gln225Lys
ENST00000404537.5:c.673C>A (OBSL1) ENSP00000385636.1:p.Gln225Lys
ENST00000465149.1:n.180C>A (OBSL1)
ENST00000465589.1:n.232C>A (OBSL1)
ENST00000489456.1:n.285+1114G>T (INHA)
ENST00000491370.1:n.482C>A (OBSL1)
ENST00000603926.5:c.673C>A (OBSL1) ENSP00000474519.1:p.Gln225Lys
NM_001173408.1:c.673C>A (OBSL1) NP_001166879.1:p.Gln225Lys
NM_001173431.1:c.673C>A (OBSL1) NP_001166902.1:p.Gln225Lys
NM_015311.2:c.673C>A (OBSL1) NP_056126.1:p.Gln225Lys
XM_005246424.3:c.673C>A (OBSL1) XP_005246481.1:p.Gln225Lys
XM_005246427.3:c.673C>A (OBSL1) XP_005246484.1:p.Gln225Lys
XM_011510854.1:c.673C>A (OBSL1) XP_011509156.1:p.Gln225Lys
XM_011510855.1:c.673C>A (OBSL1) XP_011509157.1:p.Gln225Lys
XM_011510856.1:c.673C>A (OBSL1) XP_011509158.1:p.Gln225Lys
XM_011510857.1:c.673C>A (OBSL1) XP_011509159.1:p.Gln225Lys
XM_011510858.1:c.673C>A (OBSL1) XP_011509160.1:p.Gln225Lys
XM_011510859.1:c.673C>A (OBSL1) XP_011509161.1:p.Gln225Lys
XM_011510860.1:c.673C>A (OBSL1) XP_011509162.1:p.Gln225Lys
XM_011510861.1:c.673C>A (OBSL1) XP_011509163.1:p.Gln225Lys
XM_011510862.1:c.673C>A (OBSL1) XP_011509164.1:p.Gln225Lys
XM_011510863.1:c.673C>A (OBSL1) XP_011509165.1:p.Gln225Lys
XM_011510864.1:c.673C>A (OBSL1) XP_011509166.1:p.Gln225Lys
XM_011510865.1:c.673C>A (OBSL1) XP_011509167.1:p.Gln225Lys
XM_011510866.1:c.673C>A (OBSL1) XP_011509168.1:p.Gln225Lys
XM_011510857.2:c.673C>A (OBSL1) XP_011509159.1:p.Gln225Lys
XM_011510863.3:c.673C>A (OBSL1) XP_011509165.1:p.Gln225Lys
XM_011510864.2:c.673C>A (OBSL1) XP_011509166.1:p.Gln225Lys
XM_011510865.2:c.673C>A (OBSL1) XP_011509167.1:p.Gln225Lys
XM_011510866.2:c.673C>A (OBSL1) XP_011509168.1:p.Gln225Lys
XM_017003696.2:c.673C>A (OBSL1) XP_016859185.1:p.Gln225Lys
XM_017003697.2:c.673C>A (OBSL1) XP_016859186.1:p.Gln225Lys
XM_017003698.1:c.673C>A (OBSL1) XP_016859187.1:p.Gln225Lys
XM_017003699.1:c.673C>A (OBSL1) XP_016859188.1:p.Gln225Lys
XM_017003700.1:c.673C>A (OBSL1) XP_016859189.1:p.Gln225Lys
NM_015311.3:c.673C>A (OBSL1) MANE Select NP_056126.1:p.Gln225Lys
NM_001173408.2:c.673C>A (OBSL1) NP_001166879.1:p.Gln225Lys
NM_001173431.2:c.673C>A (OBSL1) NP_001166902.1:p.Gln225Lys