Canonical Allele Identifier: CA388640368

Gene: PCCA

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.100515529G>T , CM000675.2:g.100515529G>T	GRCh38
NC_000013.10:g.101167783G>T , CM000675.1:g.101167783G>T	GRCh37
NC_000013.9:g.99965784G>T	NCBI36
NG_008768.1:g.431447G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000282.4:c.2002G>T MANE Select	NP_000273.2:p.Gly668Ter
ENST00000376285.6:c.2002G>T MANE Select	ENSP00000365462.1:p.Gly668Ter
NM_000282.3:c.2002G>T	NP_000273.2:p.Gly668Ter
NM_001127692.2:c.1924G>T	NP_001121164.1:p.Gly642Ter
NM_001127692.3:c.1924G>T	NP_001121164.1:p.Gly642Ter
NM_001178004.1:c.1900-12146G>T	NP_001171475.1:n.1900-12146G>T
NM_001178004.2:c.1900-12146G>T	NP_001171475.1:n.1900-12146G>T
NM_001352605.1:c.1948G>T	NP_001339534.1:p.Gly650Ter
NM_001352605.2:c.1948G>T	NP_001339534.1:p.Gly650Ter
NM_001352606.1:c.1858G>T	NP_001339535.1:p.Gly620Ter
NM_001352606.2:c.1858G>T	NP_001339535.1:p.Gly620Ter
NM_001352607.1:c.1822-12146G>T	NP_001339536.1:n.1822-12146G>T
NM_001352607.2:c.1822-12146G>T	NP_001339536.1:n.1822-12146G>T
NM_001352608.1:c.1780G>T	NP_001339537.1:p.Gly594Ter
NM_001352608.2:c.1780G>T	NP_001339537.1:p.Gly594Ter
NM_001352610.1:c.1057G>T	NP_001339539.1:p.Gly353Ter
NM_001352610.2:c.1057G>T	NP_001339539.1:p.Gly353Ter
NM_001352611.1:c.1003G>T	NP_001339540.1:p.Gly335Ter
NM_001352611.2:c.1003G>T	NP_001339540.1:p.Gly335Ter
NM_001352612.1:c.913G>T	NP_001339541.1:p.Gly305Ter
NM_001352612.2:c.913G>T	NP_001339541.1:p.Gly305Ter
NR_148027.1:n.2090-12146G>T
NR_148027.2:n.2012-12146G>T
NR_148028.1:n.2089G>T
NR_148028.2:n.2011G>T
NR_148029.1:n.2011G>T
NR_148029.2:n.1933G>T
NR_148030.1:n.2192G>T
NR_148030.2:n.2114G>T
NR_148031.1:n.2005G>T
NR_148031.2:n.1927G>T
ENST00000376279.7:c.1900-12146G>T	ENSP00000365456.3:n.1900-12146G>T
ENST00000376285.5:c.2002G>T	ENSP00000365462.1:p.Gly668Ter
ENST00000376286.8:c.1924G>T	ENSP00000365463.4:p.Gly642Ter
ENST00000428969.1:c.103G>T	ENSP00000399413.1:p.Gly35Ter
ENST00000458283.5:c.257-12146G>T
ENST00000636366.1:c.1200G>T
ENST00000636475.1:c.1517G>T
ENST00000637657.1:c.1662G>T
ENST00000647303.1:c.*1486G>T	ENSP00000495663.1:n.*1486G>T
XM_017020609.1:c.1903G>T	XP_016876098.1:p.Gly635Ter
XM_017020612.1:c.*35G>T	XP_016876101.1:n.*35G>T
XM_017020613.1:c.1979-12146G>T	XP_016876102.1:n.1979-12146G>T
XR_001749567.1:n.2182G>T
XR_001749568.1:n.2269G>T
XR_001749569.1:n.2167-12146G>T
XR_001749574.1:n.2038G>T
XR_001749576.1:n.1739G>T
XR_001749577.1:n.1636G>T
XR_931615.1:n.1898-12146G>T