Canonical Allele Identifier: CA2114131452

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.100530284C= , CM000675.2:g.100530284C= GRCh38
NC_000013.10:g.101182538C= , CM000675.1:g.101182538C= GRCh37
NC_000013.9:g.99980539C= NCBI36
NG_008768.1:g.446202C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000683975.1:c.*1846G= (GGACT) MANE Select ENSP00000508020.1:n.*1846G=
ENST00000376285.6:c.*118C= (PCCA) MANE Select ENSP00000365462.1:n.*118C=
ENST00000636366.1:c.1503C= (PCCA)
ENST00000636475.1:c.1820C= (PCCA)
ENST00000637657.1:c.1965C= (PCCA)
ENST00000647303.1:c.*1789C= (PCCA) ENSP00000495663.1:n.*1789C=
ENST00000376250.6:c.*1846G= (GGACT) ENSP00000365426.1:n.*1846G=
ENST00000376279.7:c.*118C= (PCCA) ENSP00000365456.3:n.*118C=
ENST00000376285.5:c.*118C= (PCCA) ENSP00000365462.1:n.*118C=
ENST00000376286.8:c.*118C= (PCCA) ENSP00000365463.4:n.*118C=
ENST00000428969.1:c.454C= (PCCA) ENSP00000399413.1:n.454C=
ENST00000455100.2:c.*1846G= (GGACT) ENSP00000410449.1:n.*1846G=
ENST00000458283.5:c.521C= (PCCA)
NM_000282.3:c.*118C= (PCCA) NP_000273.2:n.*118C=
NM_001127692.2:c.*118C= (PCCA) NP_001121164.1:n.*118C=
NM_001178004.1:c.*118C= (PCCA) NP_001171475.1:n.*118C=
NM_001195087.1:c.*1846G= (GGACT) NP_001182016.1:n.*1846G=
NM_033110.2:c.*1846G= (GGACT) NP_149101.1:n.*1846G=
XR_931615.1:n.2162C= (PCCA)
NM_001352605.1:c.*118C= (PCCA) NP_001339534.1:n.*118C=
NM_001352606.1:c.*118C= (PCCA) NP_001339535.1:n.*118C=
NM_001352607.1:c.*118C= (PCCA) NP_001339536.1:n.*118C=
NM_001352608.1:c.*118C= (PCCA) NP_001339537.1:n.*118C=
NM_001352610.1:c.*118C= (PCCA) NP_001339539.1:n.*118C=
NM_001352611.1:c.*118C= (PCCA) NP_001339540.1:n.*118C=
NM_001352612.1:c.*118C= (PCCA) NP_001339541.1:n.*118C=
NR_148027.1:n.2354C= (PCCA)
NR_148028.1:n.2392C= (PCCA)
NR_148029.1:n.2314C= (PCCA)
NR_148030.1:n.2495C= (PCCA)
NR_148031.1:n.2308C= (PCCA)
XM_005254083.2:c.*1846G= (GGACT) XP_005254140.1:n.*1846G=
XM_011521129.3:c.*1846G= (GGACT) XP_011519431.1:n.*1846G=
XM_017020609.1:c.*118C= (PCCA) XP_016876098.1:n.*118C=
XM_017020613.1:c.*233C= (PCCA) XP_016876102.1:n.*233C=
XR_001749567.1:n.2485C= (PCCA)
XR_001749568.1:n.2572C= (PCCA)
XR_001749569.1:n.2431C= (PCCA)
XR_001749576.1:n.2042C= (PCCA)
XR_001749577.1:n.1939C= (PCCA)
NM_000282.4:c.*118C= (PCCA) MANE Select NP_000273.2:n.*118C=
NM_001352605.2:c.*118C= (PCCA) NP_001339534.1:n.*118C=
NM_001352606.2:c.*118C= (PCCA) NP_001339535.1:n.*118C=
NM_001352607.2:c.*118C= (PCCA) NP_001339536.1:n.*118C=
NM_001352608.2:c.*118C= (PCCA) NP_001339537.1:n.*118C=
NM_001352610.2:c.*118C= (PCCA) NP_001339539.1:n.*118C=
NM_001352611.2:c.*118C= (PCCA) NP_001339540.1:n.*118C=
NM_001352612.2:c.*118C= (PCCA) NP_001339541.1:n.*118C=
NR_148027.2:n.2276C= (PCCA)
NR_148028.2:n.2314C= (PCCA)
NR_148029.2:n.2236C= (PCCA)
NR_148030.2:n.2417C= (PCCA)
NR_148031.2:n.2230C= (PCCA)
NM_001127692.3:c.*118C= (PCCA) NP_001121164.1:n.*118C=
NM_001178004.2:c.*118C= (PCCA) NP_001171475.1:n.*118C=
NM_001195087.2:c.*1846G= (GGACT) MANE Select NP_001182016.1:n.*1846G=
NM_033110.3:c.*1846G= (GGACT) NP_149101.1:n.*1846G=