Canonical Allele Identifier: CA10633777

Linked Data

ClinVar Variation Id: 310857
ClinVar RCV Id: RCV000375316
dbSNP Id: rs41281124

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.100530356C>G , CM000675.2:g.100530356C>G GRCh38
NC_000013.10:g.101182610C>G , CM000675.1:g.101182610C>G GRCh37
NC_000013.9:g.99980611C>G NCBI36
NG_008768.1:g.446274C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000683975.1:c.*1774G>C (GGACT) MANE Select ENSP00000508020.1:n.*1774G>C
ENST00000376285.6:c.*190C>G (PCCA) MANE Select ENSP00000365462.1:n.*190C>G
ENST00000636366.1:c.1575C>G (PCCA)
ENST00000636475.1:c.1892C>G (PCCA)
ENST00000637657.1:c.2037C>G (PCCA)
ENST00000647303.1:c.*1861C>G (PCCA) ENSP00000495663.1:n.*1861C>G
ENST00000376250.6:c.*1774G>C (GGACT) ENSP00000365426.1:n.*1774G>C
ENST00000376279.7:c.*190C>G (PCCA) ENSP00000365456.3:n.*190C>G
ENST00000376285.5:c.*190C>G (PCCA) ENSP00000365462.1:n.*190C>G
ENST00000376286.8:c.*190C>G (PCCA) ENSP00000365463.4:n.*190C>G
ENST00000428969.1:c.526C>G (PCCA) ENSP00000399413.1:n.526C>G
ENST00000455100.2:c.*1774G>C (GGACT) ENSP00000410449.1:n.*1774G>C
ENST00000458283.5:c.593C>G (PCCA)
NM_000282.3:c.*190C>G (PCCA) NP_000273.2:n.*190C>G
NM_001127692.2:c.*190C>G (PCCA) NP_001121164.1:n.*190C>G
NM_001178004.1:c.*190C>G (PCCA) NP_001171475.1:n.*190C>G
NM_001195087.1:c.*1774G>C (GGACT) NP_001182016.1:n.*1774G>C
NM_033110.2:c.*1774G>C (GGACT) NP_149101.1:n.*1774G>C
XR_931615.1:n.2234C>G (PCCA)
NM_001352605.1:c.*190C>G (PCCA) NP_001339534.1:n.*190C>G
NM_001352606.1:c.*190C>G (PCCA) NP_001339535.1:n.*190C>G
NM_001352607.1:c.*190C>G (PCCA) NP_001339536.1:n.*190C>G
NM_001352608.1:c.*190C>G (PCCA) NP_001339537.1:n.*190C>G
NM_001352610.1:c.*190C>G (PCCA) NP_001339539.1:n.*190C>G
NM_001352611.1:c.*190C>G (PCCA) NP_001339540.1:n.*190C>G
NM_001352612.1:c.*190C>G (PCCA) NP_001339541.1:n.*190C>G
NR_148027.1:n.2426C>G (PCCA)
NR_148028.1:n.2464C>G (PCCA)
NR_148029.1:n.2386C>G (PCCA)
NR_148030.1:n.2567C>G (PCCA)
NR_148031.1:n.2380C>G (PCCA)
XM_005254083.2:c.*1774G>C (GGACT) XP_005254140.1:n.*1774G>C
XM_011521129.3:c.*1774G>C (GGACT) XP_011519431.1:n.*1774G>C
XM_017020609.1:c.*190C>G (PCCA) XP_016876098.1:n.*190C>G
XM_017020613.1:c.*305C>G (PCCA) XP_016876102.1:n.*305C>G
XR_001749567.1:n.2557C>G (PCCA)
XR_001749568.1:n.2644C>G (PCCA)
XR_001749569.1:n.2503C>G (PCCA)
XR_001749576.1:n.2114C>G (PCCA)
XR_001749577.1:n.2011C>G (PCCA)
NM_000282.4:c.*190C>G (PCCA) MANE Select NP_000273.2:n.*190C>G
NM_001352605.2:c.*190C>G (PCCA) NP_001339534.1:n.*190C>G
NM_001352606.2:c.*190C>G (PCCA) NP_001339535.1:n.*190C>G
NM_001352607.2:c.*190C>G (PCCA) NP_001339536.1:n.*190C>G
NM_001352608.2:c.*190C>G (PCCA) NP_001339537.1:n.*190C>G
NM_001352610.2:c.*190C>G (PCCA) NP_001339539.1:n.*190C>G
NM_001352611.2:c.*190C>G (PCCA) NP_001339540.1:n.*190C>G
NM_001352612.2:c.*190C>G (PCCA) NP_001339541.1:n.*190C>G
NR_148027.2:n.2348C>G (PCCA)
NR_148028.2:n.2386C>G (PCCA)
NR_148029.2:n.2308C>G (PCCA)
NR_148030.2:n.2489C>G (PCCA)
NR_148031.2:n.2302C>G (PCCA)
NM_001127692.3:c.*190C>G (PCCA) NP_001121164.1:n.*190C>G
NM_001178004.2:c.*190C>G (PCCA) NP_001171475.1:n.*190C>G
NM_001195087.2:c.*1774G>C (GGACT) MANE Select NP_001182016.1:n.*1774G>C
NM_033110.3:c.*1774G>C (GGACT) NP_149101.1:n.*1774G>C