Canonical Allele Identifier: CA388640607
Community Standard Title: NM_000282.4(PCCA):c.2056G>T (p.Glu686Ter)
Gene: PCCA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.100527690G>T , CM000675.2:g.100527690G>T GRCh38
NC_000013.10:g.101179944G>T , CM000675.1:g.101179944G>T GRCh37
NC_000013.9:g.99977945G>T NCBI36
NG_008768.1:g.443608G>T

Transcript Alleles

HGVS Amino-acid Change
NM_000282.4:c.2056G>T MANE Select NP_000273.2:p.Glu686Ter
ENST00000376285.6:c.2056G>T MANE Select ENSP00000365462.1:p.Glu686Ter
NM_000282.3:c.2056G>T NP_000273.2:p.Glu686Ter
NM_001127692.2:c.1978G>T NP_001121164.1:p.Glu660Ter
NM_001127692.3:c.1978G>T NP_001121164.1:p.Glu660Ter
NM_001178004.1:c.1915G>T NP_001171475.1:p.Glu639Ter
NM_001178004.2:c.1915G>T NP_001171475.1:p.Glu639Ter
NM_001352605.1:c.2002G>T NP_001339534.1:p.Glu668Ter
NM_001352605.2:c.2002G>T NP_001339534.1:p.Glu668Ter
NM_001352606.1:c.1912G>T NP_001339535.1:p.Glu638Ter
NM_001352606.2:c.1912G>T NP_001339535.1:p.Glu638Ter
NM_001352607.1:c.1837G>T NP_001339536.1:p.Glu613Ter
NM_001352607.2:c.1837G>T NP_001339536.1:p.Glu613Ter
NM_001352608.1:c.1834G>T NP_001339537.1:p.Glu612Ter
NM_001352608.2:c.1834G>T NP_001339537.1:p.Glu612Ter
NM_001352610.1:c.1111G>T NP_001339539.1:p.Glu371Ter
NM_001352610.2:c.1111G>T NP_001339539.1:p.Glu371Ter
NM_001352611.1:c.1057G>T NP_001339540.1:p.Glu353Ter
NM_001352611.2:c.1057G>T NP_001339540.1:p.Glu353Ter
NM_001352612.1:c.967G>T NP_001339541.1:p.Glu323Ter
NM_001352612.2:c.967G>T NP_001339541.1:p.Glu323Ter
NR_148027.1:n.2105G>T
NR_148027.2:n.2027G>T
NR_148028.1:n.2143G>T
NR_148028.2:n.2065G>T
NR_148029.1:n.2065G>T
NR_148029.2:n.1987G>T
NR_148030.1:n.2246G>T
NR_148030.2:n.2168G>T
NR_148031.1:n.2059G>T
NR_148031.2:n.1981G>T
ENST00000376279.7:c.1915G>T ENSP00000365456.3:p.Glu639Ter
ENST00000376285.5:c.2056G>T ENSP00000365462.1:p.Glu686Ter
ENST00000376286.8:c.1978G>T ENSP00000365463.4:p.Glu660Ter
ENST00000428969.1:c.205G>T ENSP00000399413.1:p.Glu69Ter
ENST00000458283.5:c.272G>T
ENST00000636366.1:c.1254G>T
ENST00000636475.1:c.1571G>T
ENST00000637657.1:c.1716G>T
ENST00000647303.1:c.*1540G>T ENSP00000495663.1:n.*1540G>T
XM_017020609.1:c.1957G>T XP_016876098.1:p.Glu653Ter
XM_017020613.1:c.1994G>T XP_016876102.1:p.Arg665Ile
XR_001749567.1:n.2236G>T
XR_001749568.1:n.2323G>T
XR_001749569.1:n.2182G>T
XR_001749574.1:n.2092G>T
XR_001749576.1:n.1793G>T
XR_001749577.1:n.1690G>T
XR_931615.1:n.1913G>T