Canonical Allele Identifier: CA694164839

Linked Data

dbSNP Id: rs1330491041

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.100530205G>T , CM000675.2:g.100530205G>T GRCh38
NC_000013.10:g.101182459G>T , CM000675.1:g.101182459G>T GRCh37
NC_000013.9:g.99980460G>T NCBI36
NG_008768.1:g.446123G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000683975.1:c.*1925C>A (GGACT) MANE Select ENSP00000508020.1:n.*1925C>A
ENST00000376285.6:c.*39G>T (PCCA) MANE Select ENSP00000365462.1:n.*39G>T
ENST00000636366.1:c.1424G>T (PCCA)
ENST00000636475.1:c.1741G>T (PCCA)
ENST00000637657.1:c.1886G>T (PCCA)
ENST00000647303.1:c.*1710G>T (PCCA) ENSP00000495663.1:n.*1710G>T
ENST00000376250.6:c.*1925C>A (GGACT) ENSP00000365426.1:n.*1925C>A
ENST00000376279.7:c.*39G>T (PCCA) ENSP00000365456.3:n.*39G>T
ENST00000376285.5:c.*39G>T (PCCA) ENSP00000365462.1:n.*39G>T
ENST00000376286.8:c.*39G>T (PCCA) ENSP00000365463.4:n.*39G>T
ENST00000428969.1:c.375G>T (PCCA) ENSP00000399413.1:n.375G>T
ENST00000455100.2:c.*1925C>A (GGACT) ENSP00000410449.1:n.*1925C>A
ENST00000458283.5:c.442G>T (PCCA)
NM_000282.3:c.*39G>T (PCCA) NP_000273.2:n.*39G>T
NM_001127692.2:c.*39G>T (PCCA) NP_001121164.1:n.*39G>T
NM_001178004.1:c.*39G>T (PCCA) NP_001171475.1:n.*39G>T
NM_001195087.1:c.*1925C>A (GGACT) NP_001182016.1:n.*1925C>A
NM_033110.2:c.*1925C>A (GGACT) NP_149101.1:n.*1925C>A
XR_931615.1:n.2083G>T (PCCA)
NM_001352605.1:c.*39G>T (PCCA) NP_001339534.1:n.*39G>T
NM_001352606.1:c.*39G>T (PCCA) NP_001339535.1:n.*39G>T
NM_001352607.1:c.*39G>T (PCCA) NP_001339536.1:n.*39G>T
NM_001352608.1:c.*39G>T (PCCA) NP_001339537.1:n.*39G>T
NM_001352610.1:c.*39G>T (PCCA) NP_001339539.1:n.*39G>T
NM_001352611.1:c.*39G>T (PCCA) NP_001339540.1:n.*39G>T
NM_001352612.1:c.*39G>T (PCCA) NP_001339541.1:n.*39G>T
NR_148027.1:n.2275G>T (PCCA)
NR_148028.1:n.2313G>T (PCCA)
NR_148029.1:n.2235G>T (PCCA)
NR_148030.1:n.2416G>T (PCCA)
NR_148031.1:n.2229G>T (PCCA)
XM_005254083.2:c.*1925C>A (GGACT) XP_005254140.1:n.*1925C>A
XM_011521129.3:c.*1925C>A (GGACT) XP_011519431.1:n.*1925C>A
XM_017020609.1:c.*39G>T (PCCA) XP_016876098.1:n.*39G>T
XM_017020613.1:c.*154G>T (PCCA) XP_016876102.1:n.*154G>T
XR_001749567.1:n.2406G>T (PCCA)
XR_001749568.1:n.2493G>T (PCCA)
XR_001749569.1:n.2352G>T (PCCA)
XR_001749576.1:n.1963G>T (PCCA)
XR_001749577.1:n.1860G>T (PCCA)
NM_000282.4:c.*39G>T (PCCA) MANE Select NP_000273.2:n.*39G>T
NM_001352605.2:c.*39G>T (PCCA) NP_001339534.1:n.*39G>T
NM_001352606.2:c.*39G>T (PCCA) NP_001339535.1:n.*39G>T
NM_001352607.2:c.*39G>T (PCCA) NP_001339536.1:n.*39G>T
NM_001352608.2:c.*39G>T (PCCA) NP_001339537.1:n.*39G>T
NM_001352610.2:c.*39G>T (PCCA) NP_001339539.1:n.*39G>T
NM_001352611.2:c.*39G>T (PCCA) NP_001339540.1:n.*39G>T
NM_001352612.2:c.*39G>T (PCCA) NP_001339541.1:n.*39G>T
NR_148027.2:n.2197G>T (PCCA)
NR_148028.2:n.2235G>T (PCCA)
NR_148029.2:n.2157G>T (PCCA)
NR_148030.2:n.2338G>T (PCCA)
NR_148031.2:n.2151G>T (PCCA)
NM_001127692.3:c.*39G>T (PCCA) NP_001121164.1:n.*39G>T
NM_001178004.2:c.*39G>T (PCCA) NP_001171475.1:n.*39G>T
NM_001195087.2:c.*1925C>A (GGACT) MANE Select NP_001182016.1:n.*1925C>A
NM_033110.3:c.*1925C>A (GGACT) NP_149101.1:n.*1925C>A