Canonical Allele Identifier: CA388696337

Gene: PCCA

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.100340177G>T , CM000675.2:g.100340177G>T	GRCh38
NC_000013.10:g.100992431G>T , CM000675.1:g.100992431G>T	GRCh37
NC_000013.9:g.99790432G>T	NCBI36
NG_008768.1:g.256095G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000282.4:c.1561G>T MANE Select	NP_000273.2:p.Glu521Ter
ENST00000376285.6:c.1561G>T MANE Select	ENSP00000365462.1:p.Glu521Ter
NM_000282.3:c.1561G>T	NP_000273.2:p.Glu521Ter
NM_001127692.2:c.1483G>T	NP_001121164.1:p.Glu495Ter
NM_001127692.3:c.1483G>T	NP_001121164.1:p.Glu495Ter
NM_001178004.1:c.1561G>T	NP_001171475.1:p.Glu521Ter
NM_001178004.2:c.1561G>T	NP_001171475.1:p.Glu521Ter
NM_001352605.1:c.1561G>T	NP_001339534.1:p.Glu521Ter
NM_001352605.2:c.1561G>T	NP_001339534.1:p.Glu521Ter
NM_001352606.1:c.1417G>T	NP_001339535.1:p.Glu473Ter
NM_001352606.2:c.1417G>T	NP_001339535.1:p.Glu473Ter
NM_001352607.1:c.1483G>T	NP_001339536.1:p.Glu495Ter
NM_001352607.2:c.1483G>T	NP_001339536.1:p.Glu495Ter
NM_001352608.1:c.1339G>T	NP_001339537.1:p.Glu447Ter
NM_001352608.2:c.1339G>T	NP_001339537.1:p.Glu447Ter
NM_001352609.1:c.1561G>T	NP_001339538.1:p.Glu521Ter
NM_001352609.2:c.1561G>T	NP_001339538.1:p.Glu521Ter
NM_001352610.1:c.616G>T	NP_001339539.1:p.Glu206Ter
NM_001352610.2:c.616G>T	NP_001339539.1:p.Glu206Ter
NM_001352611.1:c.616G>T	NP_001339540.1:p.Glu206Ter
NM_001352611.2:c.616G>T	NP_001339540.1:p.Glu206Ter
NM_001352612.1:c.472G>T	NP_001339541.1:p.Glu158Ter
NM_001352612.2:c.472G>T	NP_001339541.1:p.Glu158Ter
NR_148027.1:n.1751G>T
NR_148027.2:n.1673G>T
NR_148028.1:n.1751G>T
NR_148028.2:n.1673G>T
NR_148029.1:n.1673G>T
NR_148029.2:n.1595G>T
NR_148030.1:n.1751G>T
NR_148030.2:n.1673G>T
NR_148031.1:n.1667G>T
NR_148031.2:n.1589G>T
ENST00000376279.7:c.1561G>T	ENSP00000365456.3:p.Glu521Ter
ENST00000376285.5:c.1561G>T	ENSP00000365462.1:p.Glu521Ter
ENST00000376286.8:c.1483G>T	ENSP00000365463.4:p.Glu495Ter
ENST00000424527.5:c.163G>T	ENSP00000396050.1:p.Glu55Ter
ENST00000443601.1:c.336G>T
ENST00000636366.1:c.944+66831G>T
ENST00000636475.1:c.1076G>T
ENST00000637657.1:c.1221G>T
ENST00000647303.1:c.*1045G>T	ENSP00000495663.1:n.*1045G>T
XM_005254059.2:c.1561G>T	XP_005254116.1:p.Glu521Ter
XM_011521093.1:c.1561G>T	XP_011519395.1:p.Glu521Ter
XM_017020605.1:c.1561G>T	XP_016876094.1:p.Glu521Ter
XM_017020606.1:c.1483G>T	XP_016876095.1:p.Glu495Ter
XM_017020607.1:c.1462G>T	XP_016876096.1:p.Glu488Ter
XM_017020609.1:c.1462G>T	XP_016876098.1:p.Glu488Ter
XM_017020611.1:c.1561G>T	XP_016876100.1:p.Glu521Ter
XM_017020612.1:c.1561G>T	XP_016876101.1:p.Glu521Ter
XM_017020613.1:c.1561G>T	XP_016876102.1:p.Glu521Ter
XM_017020615.1:c.1561G>T	XP_016876104.1:p.Glu521Ter
XM_017020616.1:c.1561G>T	XP_016876105.1:p.Glu521Ter
XR_001749567.1:n.1662G>T
XR_001749568.1:n.1662G>T
XR_001749569.1:n.1662G>T
XR_001749574.1:n.1597G>T
XR_001749576.1:n.1298G>T
XR_001749577.1:n.1298G>T
XR_001749974.1:n.355-372C>A
XR_001749976.1:n.276-372C>A
XR_001749977.1:n.355-372C>A
XR_001749978.1:n.284-372C>A
XR_001749979.1:n.198-372C>A
XR_931615.1:n.1662G>T
XR_931677.1:n.284-372C>A
XR_931678.1:n.355-372C>A
XR_931679.1:n.355-372C>A
XR_931680.1:n.355-372C>A
XR_931681.1:n.355-372C>A
XR_931682.1:n.355-372C>A
XR_931683.1:n.355-6573C>A