Canonical Allele Identifier: CA388696810

Gene: PCCA

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.100425673G>A , CM000675.2:g.100425673G>A	GRCh38
NC_000013.10:g.101077927G>A , CM000675.1:g.101077927G>A	GRCh37
NC_000013.9:g.99875928G>A	NCBI36
NG_008768.1:g.341591G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376285.6:c.1787G>A MANE Select	ENSP00000365462.1:p.Trp596Ter
ENST00000636366.1:c.985G>A
ENST00000636475.1:c.1302G>A
ENST00000637657.1:c.1447G>A
ENST00000647303.1:c.*1271G>A	ENSP00000495663.1:n.*1271G>A
ENST00000376279.7:c.1787G>A	ENSP00000365456.3:p.Trp596Ter
ENST00000376285.5:c.1787G>A	ENSP00000365462.1:p.Trp596Ter
ENST00000376286.8:c.1709G>A	ENSP00000365463.4:p.Trp570Ter
ENST00000413170.1:c.117G>A
ENST00000424527.5:c.389G>A	ENSP00000396050.1:p.Trp130Ter
ENST00000458283.5:c.144G>A
NM_000282.3:c.1787G>A	NP_000273.2:p.Trp596Ter
NM_001127692.2:c.1709G>A	NP_001121164.1:p.Trp570Ter
NM_001178004.1:c.1787G>A	NP_001171475.1:p.Trp596Ter
XM_005254059.2:c.1787G>A	XP_005254116.1:p.Trp596Ter
XM_011521093.1:c.1787G>A	XP_011519395.1:p.Trp596Ter
XR_931615.1:n.1785G>A
NM_001352605.1:c.1787G>A	NP_001339534.1:p.Trp596Ter
NM_001352606.1:c.1643G>A	NP_001339535.1:p.Trp548Ter
NM_001352607.1:c.1709G>A	NP_001339536.1:p.Trp570Ter
NM_001352608.1:c.1565G>A	NP_001339537.1:p.Trp522Ter
NM_001352609.1:c.1787G>A	NP_001339538.1:p.Trp596Ter
NM_001352610.1:c.842G>A	NP_001339539.1:p.Trp281Ter
NM_001352611.1:c.842G>A	NP_001339540.1:p.Trp281Ter
NM_001352612.1:c.698G>A	NP_001339541.1:p.Trp233Ter
NR_148027.1:n.1977G>A
NR_148028.1:n.1874G>A
NR_148029.1:n.1796G>A
NR_148030.1:n.1977G>A
NR_148031.1:n.1790G>A
XM_017020605.1:c.1787G>A	XP_016876094.1:p.Trp596Ter
XM_017020606.1:c.1709G>A	XP_016876095.1:p.Trp570Ter
XM_017020607.1:c.1688G>A	XP_016876096.1:p.Trp563Ter
XM_017020609.1:c.1688G>A	XP_016876098.1:p.Trp563Ter
XM_017020611.1:c.1787G>A	XP_016876100.1:p.Trp596Ter
XM_017020612.1:c.1787G>A	XP_016876101.1:p.Trp596Ter
XM_017020613.1:c.1787G>A	XP_016876102.1:p.Trp596Ter
XR_001749567.1:n.1888G>A
XR_001749568.1:n.2054G>A
XR_001749569.1:n.2054G>A
XR_001749574.1:n.1823G>A
XR_001749576.1:n.1524G>A
XR_001749577.1:n.1421G>A
NM_000282.4:c.1787G>A MANE Select	NP_000273.2:p.Trp596Ter
NM_001352605.2:c.1787G>A	NP_001339534.1:p.Trp596Ter
NM_001352606.2:c.1643G>A	NP_001339535.1:p.Trp548Ter
NM_001352607.2:c.1709G>A	NP_001339536.1:p.Trp570Ter
NM_001352608.2:c.1565G>A	NP_001339537.1:p.Trp522Ter
NM_001352609.2:c.1787G>A	NP_001339538.1:p.Trp596Ter
NM_001352610.2:c.842G>A	NP_001339539.1:p.Trp281Ter
NM_001352611.2:c.842G>A	NP_001339540.1:p.Trp281Ter
NM_001352612.2:c.698G>A	NP_001339541.1:p.Trp233Ter
NR_148027.2:n.1899G>A
NR_148028.2:n.1796G>A
NR_148029.2:n.1718G>A
NR_148030.2:n.1899G>A
NR_148031.2:n.1712G>A
NM_001127692.3:c.1709G>A	NP_001121164.1:p.Trp570Ter
NM_001178004.2:c.1787G>A	NP_001171475.1:p.Trp596Ter