Canonical Allele Identifier: CA388640677
Community Standard Title: NM_000282.4(PCCA):c.2086C>T (p.Gln696Ter)
Gene: PCCA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.100527720C>T , CM000675.2:g.100527720C>T GRCh38
NC_000013.10:g.101179974C>T , CM000675.1:g.101179974C>T GRCh37
NC_000013.9:g.99977975C>T NCBI36
NG_008768.1:g.443638C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000282.4:c.2086C>T MANE Select NP_000273.2:p.Gln696Ter
ENST00000376285.6:c.2086C>T MANE Select ENSP00000365462.1:p.Gln696Ter
NM_000282.3:c.2086C>T NP_000273.2:p.Gln696Ter
NM_001127692.2:c.2008C>T NP_001121164.1:p.Gln670Ter
NM_001127692.3:c.2008C>T NP_001121164.1:p.Gln670Ter
NM_001178004.1:c.1945C>T NP_001171475.1:p.Gln649Ter
NM_001178004.2:c.1945C>T NP_001171475.1:p.Gln649Ter
NM_001352605.1:c.2032C>T NP_001339534.1:p.Gln678Ter
NM_001352605.2:c.2032C>T NP_001339534.1:p.Gln678Ter
NM_001352606.1:c.1942C>T NP_001339535.1:p.Gln648Ter
NM_001352606.2:c.1942C>T NP_001339535.1:p.Gln648Ter
NM_001352607.1:c.1867C>T NP_001339536.1:p.Gln623Ter
NM_001352607.2:c.1867C>T NP_001339536.1:p.Gln623Ter
NM_001352608.1:c.1864C>T NP_001339537.1:p.Gln622Ter
NM_001352608.2:c.1864C>T NP_001339537.1:p.Gln622Ter
NM_001352610.1:c.1141C>T NP_001339539.1:p.Gln381Ter
NM_001352610.2:c.1141C>T NP_001339539.1:p.Gln381Ter
NM_001352611.1:c.1087C>T NP_001339540.1:p.Gln363Ter
NM_001352611.2:c.1087C>T NP_001339540.1:p.Gln363Ter
NM_001352612.1:c.997C>T NP_001339541.1:p.Gln333Ter
NM_001352612.2:c.997C>T NP_001339541.1:p.Gln333Ter
NR_148027.1:n.2135C>T
NR_148027.2:n.2057C>T
NR_148028.1:n.2173C>T
NR_148028.2:n.2095C>T
NR_148029.1:n.2095C>T
NR_148029.2:n.2017C>T
NR_148030.1:n.2276C>T
NR_148030.2:n.2198C>T
NR_148031.1:n.2089C>T
NR_148031.2:n.2011C>T
ENST00000376279.7:c.1945C>T ENSP00000365456.3:p.Gln649Ter
ENST00000376285.5:c.2086C>T ENSP00000365462.1:p.Gln696Ter
ENST00000376286.8:c.2008C>T ENSP00000365463.4:p.Gln670Ter
ENST00000428969.1:c.235C>T ENSP00000399413.1:p.Gln79Ter
ENST00000458283.5:c.302C>T
ENST00000636366.1:c.1284C>T
ENST00000636475.1:c.1601C>T
ENST00000637657.1:c.1746C>T
ENST00000647303.1:c.*1570C>T ENSP00000495663.1:n.*1570C>T
XM_017020609.1:c.1987C>T XP_016876098.1:p.Gln663Ter
XM_017020613.1:c.*14C>T XP_016876102.1:n.*14C>T
XR_001749567.1:n.2266C>T
XR_001749568.1:n.2353C>T
XR_001749569.1:n.2212C>T
XR_001749574.1:n.2122C>T
XR_001749576.1:n.1823C>T
XR_001749577.1:n.1720C>T
XR_931615.1:n.1943C>T