Canonical Allele Identifier: CA388698232

Gene: PCCA

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.100368510T>G , CM000675.2:g.100368510T>G	GRCh38
NC_000013.10:g.101020764T>G , CM000675.1:g.101020764T>G	GRCh37
NC_000013.9:g.99818765T>G	NCBI36
NG_008768.1:g.284428T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000282.4:c.1682T>G MANE Select	NP_000273.2:p.Leu561Arg
ENST00000376285.6:c.1682T>G MANE Select	ENSP00000365462.1:p.Leu561Arg
NM_000282.3:c.1682T>G	NP_000273.2:p.Leu561Arg
NM_001127692.2:c.1604T>G	NP_001121164.1:p.Leu535Arg
NM_001127692.3:c.1604T>G	NP_001121164.1:p.Leu535Arg
NM_001178004.1:c.1682T>G	NP_001171475.1:p.Leu561Arg
NM_001178004.2:c.1682T>G	NP_001171475.1:p.Leu561Arg
NM_001352605.1:c.1682T>G	NP_001339534.1:p.Leu561Arg
NM_001352605.2:c.1682T>G	NP_001339534.1:p.Leu561Arg
NM_001352606.1:c.1538T>G	NP_001339535.1:p.Leu513Arg
NM_001352606.2:c.1538T>G	NP_001339535.1:p.Leu513Arg
NM_001352607.1:c.1604T>G	NP_001339536.1:p.Leu535Arg
NM_001352607.2:c.1604T>G	NP_001339536.1:p.Leu535Arg
NM_001352608.1:c.1460T>G	NP_001339537.1:p.Leu487Arg
NM_001352608.2:c.1460T>G	NP_001339537.1:p.Leu487Arg
NM_001352609.1:c.1682T>G	NP_001339538.1:p.Leu561Arg
NM_001352609.2:c.1682T>G	NP_001339538.1:p.Leu561Arg
NM_001352610.1:c.737T>G	NP_001339539.1:p.Leu246Arg
NM_001352610.2:c.737T>G	NP_001339539.1:p.Leu246Arg
NM_001352611.1:c.737T>G	NP_001339540.1:p.Leu246Arg
NM_001352611.2:c.737T>G	NP_001339540.1:p.Leu246Arg
NM_001352612.1:c.593T>G	NP_001339541.1:p.Leu198Arg
NM_001352612.2:c.593T>G	NP_001339541.1:p.Leu198Arg
NR_148027.1:n.1872T>G
NR_148027.2:n.1794T>G
NR_148028.1:n.1833+28251T>G
NR_148028.2:n.1755+28251T>G
NR_148029.1:n.1755+28251T>G
NR_148029.2:n.1677+28251T>G
NR_148030.1:n.1872T>G
NR_148030.2:n.1794T>G
NR_148031.1:n.1749+28251T>G
NR_148031.2:n.1671+28251T>G
ENST00000376279.7:c.1682T>G	ENSP00000365456.3:p.Leu561Arg
ENST00000376285.5:c.1682T>G	ENSP00000365462.1:p.Leu561Arg
ENST00000376286.8:c.1604T>G	ENSP00000365463.4:p.Leu535Arg
ENST00000413170.1:c.12T>G
ENST00000424527.5:c.284T>G	ENSP00000396050.1:p.Leu95Arg
ENST00000458283.5:c.39T>G
ENST00000636366.1:c.945-57123T>G
ENST00000636475.1:c.1197T>G
ENST00000637657.1:c.1342T>G
ENST00000647303.1:c.*1166T>G	ENSP00000495663.1:n.*1166T>G
XM_005254059.2:c.1682T>G	XP_005254116.1:p.Leu561Arg
XM_011521093.1:c.1682T>G	XP_011519395.1:p.Leu561Arg
XM_017020605.1:c.1682T>G	XP_016876094.1:p.Leu561Arg
XM_017020606.1:c.1604T>G	XP_016876095.1:p.Leu535Arg
XM_017020607.1:c.1583T>G	XP_016876096.1:p.Leu528Arg
XM_017020609.1:c.1583T>G	XP_016876098.1:p.Leu528Arg
XM_017020611.1:c.1682T>G	XP_016876100.1:p.Leu561Arg
XM_017020612.1:c.1682T>G	XP_016876101.1:p.Leu561Arg
XM_017020613.1:c.1682T>G	XP_016876102.1:p.Leu561Arg
XM_017020615.1:c.1682T>G	XP_016876104.1:p.Leu561Arg
XR_001749567.1:n.1783T>G
XR_001749568.1:n.1783T>G
XR_001749569.1:n.1783T>G
XR_001749574.1:n.1718T>G
XR_001749576.1:n.1419T>G
XR_001749577.1:n.1380+28251T>G
XR_931615.1:n.1744+28251T>G