Canonical Allele Identifier: CA388696901

Gene: PCCA

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.100425717C>T , CM000675.2:g.100425717C>T	GRCh38
NC_000013.10:g.101077971C>T , CM000675.1:g.101077971C>T	GRCh37
NC_000013.9:g.99875972C>T	NCBI36
NG_008768.1:g.341635C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000282.4:c.1831C>T MANE Select	NP_000273.2:p.Gln611Ter
ENST00000376285.6:c.1831C>T MANE Select	ENSP00000365462.1:p.Gln611Ter
NM_000282.3:c.1831C>T	NP_000273.2:p.Gln611Ter
NM_001127692.2:c.1753C>T	NP_001121164.1:p.Gln585Ter
NM_001127692.3:c.1753C>T	NP_001121164.1:p.Gln585Ter
NM_001178004.1:c.1831C>T	NP_001171475.1:p.Gln611Ter
NM_001178004.2:c.1831C>T	NP_001171475.1:p.Gln611Ter
NM_001352605.1:c.1831C>T	NP_001339534.1:p.Gln611Ter
NM_001352605.2:c.1831C>T	NP_001339534.1:p.Gln611Ter
NM_001352606.1:c.1687C>T	NP_001339535.1:p.Gln563Ter
NM_001352606.2:c.1687C>T	NP_001339535.1:p.Gln563Ter
NM_001352607.1:c.1753C>T	NP_001339536.1:p.Gln585Ter
NM_001352607.2:c.1753C>T	NP_001339536.1:p.Gln585Ter
NM_001352608.1:c.1609C>T	NP_001339537.1:p.Gln537Ter
NM_001352608.2:c.1609C>T	NP_001339537.1:p.Gln537Ter
NM_001352609.1:c.1831C>T	NP_001339538.1:p.Gln611Ter
NM_001352609.2:c.1831C>T	NP_001339538.1:p.Gln611Ter
NM_001352610.1:c.886C>T	NP_001339539.1:p.Gln296Ter
NM_001352610.2:c.886C>T	NP_001339539.1:p.Gln296Ter
NM_001352611.1:c.886C>T	NP_001339540.1:p.Gln296Ter
NM_001352611.2:c.886C>T	NP_001339540.1:p.Gln296Ter
NM_001352612.1:c.742C>T	NP_001339541.1:p.Gln248Ter
NM_001352612.2:c.742C>T	NP_001339541.1:p.Gln248Ter
NR_148027.1:n.2021C>T
NR_148027.2:n.1943C>T
NR_148028.1:n.1918C>T
NR_148028.2:n.1840C>T
NR_148029.1:n.1840C>T
NR_148029.2:n.1762C>T
NR_148030.1:n.2021C>T
NR_148030.2:n.1943C>T
NR_148031.1:n.1834C>T
NR_148031.2:n.1756C>T
ENST00000376279.7:c.1831C>T	ENSP00000365456.3:p.Gln611Ter
ENST00000376285.5:c.1831C>T	ENSP00000365462.1:p.Gln611Ter
ENST00000376286.8:c.1753C>T	ENSP00000365463.4:p.Gln585Ter
ENST00000413170.1:c.161C>T
ENST00000424527.5:c.433C>T	ENSP00000396050.1:p.Gln145Ter
ENST00000458283.5:c.188C>T
ENST00000636366.1:c.1029C>T
ENST00000636475.1:c.1346C>T
ENST00000637657.1:c.1491C>T
ENST00000647303.1:c.*1315C>T	ENSP00000495663.1:n.*1315C>T
XM_005254059.2:c.1831C>T	XP_005254116.1:p.Gln611Ter
XM_011521093.1:c.1831C>T	XP_011519395.1:p.Gln611Ter
XM_017020605.1:c.1831C>T	XP_016876094.1:p.Gln611Ter
XM_017020606.1:c.1753C>T	XP_016876095.1:p.Gln585Ter
XM_017020607.1:c.1732C>T	XP_016876096.1:p.Gln578Ter
XM_017020609.1:c.1732C>T	XP_016876098.1:p.Gln578Ter
XM_017020611.1:c.1831C>T	XP_016876100.1:p.Gln611Ter
XM_017020612.1:c.1831C>T	XP_016876101.1:p.Gln611Ter
XM_017020613.1:c.1831C>T	XP_016876102.1:p.Gln611Ter
XR_001749567.1:n.1932C>T
XR_001749568.1:n.2098C>T
XR_001749569.1:n.2098C>T
XR_001749574.1:n.1867C>T
XR_001749576.1:n.1568C>T
XR_001749577.1:n.1465C>T
XR_931615.1:n.1829C>T