Canonical Allele Identifier: CA388695538

Gene: PCCA

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.100302982C>T , CM000675.2:g.100302982C>T	GRCh38
NC_000013.10:g.100955236C>T , CM000675.1:g.100955236C>T	GRCh37
NC_000013.9:g.99753237C>T	NCBI36
NG_008768.1:g.218900C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000282.4:c.1268C>T MANE Select	NP_000273.2:p.Pro423Leu
ENST00000376285.6:c.1268C>T MANE Select	ENSP00000365462.1:p.Pro423Leu
NM_000282.3:c.1268C>T	NP_000273.2:p.Pro423Leu
NM_001127692.2:c.1190C>T	NP_001121164.1:p.Pro397Leu
NM_001127692.3:c.1190C>T	NP_001121164.1:p.Pro397Leu
NM_001178004.1:c.1268C>T	NP_001171475.1:p.Pro423Leu
NM_001178004.2:c.1268C>T	NP_001171475.1:p.Pro423Leu
NM_001352605.1:c.1268C>T	NP_001339534.1:p.Pro423Leu
NM_001352605.2:c.1268C>T	NP_001339534.1:p.Pro423Leu
NM_001352606.1:c.1124C>T	NP_001339535.1:p.Pro375Leu
NM_001352606.2:c.1124C>T	NP_001339535.1:p.Pro375Leu
NM_001352607.1:c.1190C>T	NP_001339536.1:p.Pro397Leu
NM_001352607.2:c.1190C>T	NP_001339536.1:p.Pro397Leu
NM_001352608.1:c.1046C>T	NP_001339537.1:p.Pro349Leu
NM_001352608.2:c.1046C>T	NP_001339537.1:p.Pro349Leu
NM_001352609.1:c.1268C>T	NP_001339538.1:p.Pro423Leu
NM_001352609.2:c.1268C>T	NP_001339538.1:p.Pro423Leu
NM_001352610.1:c.323C>T	NP_001339539.1:p.Pro108Leu
NM_001352610.2:c.323C>T	NP_001339539.1:p.Pro108Leu
NM_001352611.1:c.323C>T	NP_001339540.1:p.Pro108Leu
NM_001352611.2:c.323C>T	NP_001339540.1:p.Pro108Leu
NM_001352612.1:c.179C>T	NP_001339541.1:p.Pro60Leu
NM_001352612.2:c.179C>T	NP_001339541.1:p.Pro60Leu
NR_148027.1:n.1374C>T
NR_148027.2:n.1296C>T
NR_148028.1:n.1374C>T
NR_148028.2:n.1296C>T
NR_148029.1:n.1296C>T
NR_148029.2:n.1218C>T
NR_148030.1:n.1374C>T
NR_148030.2:n.1296C>T
NR_148031.1:n.1374C>T
NR_148031.2:n.1296C>T
ENST00000376279.7:c.1268C>T	ENSP00000365456.3:p.Pro423Leu
ENST00000376285.5:c.1268C>T	ENSP00000365462.1:p.Pro423Leu
ENST00000376286.8:c.1190C>T	ENSP00000365463.4:p.Pro397Leu
ENST00000424527.5:c.31+9728C>T	ENSP00000396050.1:n.31+9728C>T
ENST00000636366.1:c.944+29636C>T
ENST00000636420.1:c.1147C>T
ENST00000636475.1:c.945-27579C>T
ENST00000637657.1:c.945-4210C>T
ENST00000647303.1:c.*914-27579C>T	ENSP00000495663.1:n.*914-27579C>T
XM_005254059.2:c.1268C>T	XP_005254116.1:p.Pro423Leu
XM_011521093.1:c.1268C>T	XP_011519395.1:p.Pro423Leu
XM_017020605.1:c.1268C>T	XP_016876094.1:p.Pro423Leu
XM_017020606.1:c.1190C>T	XP_016876095.1:p.Pro397Leu
XM_017020607.1:c.1169C>T	XP_016876096.1:p.Pro390Leu
XM_017020609.1:c.1169C>T	XP_016876098.1:p.Pro390Leu
XM_017020611.1:c.1268C>T	XP_016876100.1:p.Pro423Leu
XM_017020612.1:c.1268C>T	XP_016876101.1:p.Pro423Leu
XM_017020613.1:c.1268C>T	XP_016876102.1:p.Pro423Leu
XM_017020615.1:c.1268C>T	XP_016876104.1:p.Pro423Leu
XM_017020616.1:c.1268C>T	XP_016876105.1:p.Pro423Leu
XR_001749567.1:n.1369C>T
XR_001749568.1:n.1369C>T
XR_001749569.1:n.1369C>T
XR_001749574.1:n.1220C>T
XR_001749576.1:n.1167-27579C>T
XR_001749577.1:n.1167-27579C>T
XR_931615.1:n.1369C>T
XR_931616.1:n.1369C>T