Canonical Allele Identifier: CA388696101

Gene: PCCA

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.100330587C>T , CM000675.2:g.100330587C>T	GRCh38
NC_000013.10:g.100982841C>T , CM000675.1:g.100982841C>T	GRCh37
NC_000013.9:g.99780842C>T	NCBI36
NG_008768.1:g.246505C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000282.4:c.1456C>T MANE Select	NP_000273.2:p.Arg486Ter
ENST00000376285.6:c.1456C>T MANE Select	ENSP00000365462.1:p.Arg486Ter
NM_000282.3:c.1456C>T	NP_000273.2:p.Arg486Ter
NM_001127692.2:c.1378C>T	NP_001121164.1:p.Arg460Ter
NM_001127692.3:c.1378C>T	NP_001121164.1:p.Arg460Ter
NM_001178004.1:c.1456C>T	NP_001171475.1:p.Arg486Ter
NM_001178004.2:c.1456C>T	NP_001171475.1:p.Arg486Ter
NM_001352605.1:c.1456C>T	NP_001339534.1:p.Arg486Ter
NM_001352605.2:c.1456C>T	NP_001339534.1:p.Arg486Ter
NM_001352606.1:c.1312C>T	NP_001339535.1:p.Arg438Ter
NM_001352606.2:c.1312C>T	NP_001339535.1:p.Arg438Ter
NM_001352607.1:c.1378C>T	NP_001339536.1:p.Arg460Ter
NM_001352607.2:c.1378C>T	NP_001339536.1:p.Arg460Ter
NM_001352608.1:c.1234C>T	NP_001339537.1:p.Arg412Ter
NM_001352608.2:c.1234C>T	NP_001339537.1:p.Arg412Ter
NM_001352609.1:c.1456C>T	NP_001339538.1:p.Arg486Ter
NM_001352609.2:c.1456C>T	NP_001339538.1:p.Arg486Ter
NM_001352610.1:c.511C>T	NP_001339539.1:p.Arg171Ter
NM_001352610.2:c.511C>T	NP_001339539.1:p.Arg171Ter
NM_001352611.1:c.511C>T	NP_001339540.1:p.Arg171Ter
NM_001352611.2:c.511C>T	NP_001339540.1:p.Arg171Ter
NM_001352612.1:c.367C>T	NP_001339541.1:p.Arg123Ter
NM_001352612.2:c.367C>T	NP_001339541.1:p.Arg123Ter
NR_148027.1:n.1646C>T
NR_148027.2:n.1568C>T
NR_148028.1:n.1646C>T
NR_148028.2:n.1568C>T
NR_148029.1:n.1568C>T
NR_148029.2:n.1490C>T
NR_148030.1:n.1646C>T
NR_148030.2:n.1568C>T
NR_148031.1:n.1562C>T
NR_148031.2:n.1484C>T
ENST00000376279.7:c.1456C>T	ENSP00000365456.3:p.Arg486Ter
ENST00000376285.5:c.1456C>T	ENSP00000365462.1:p.Arg486Ter
ENST00000376286.8:c.1378C>T	ENSP00000365463.4:p.Arg460Ter
ENST00000424527.5:c.58C>T	ENSP00000396050.1:p.Arg20Ter
ENST00000443601.1:c.231C>T
ENST00000636366.1:c.944+57241C>T
ENST00000636420.1:c.1333C>T
ENST00000636475.1:c.971C>T
ENST00000637657.1:c.1116C>T
ENST00000647303.1:c.*940C>T	ENSP00000495663.1:n.*940C>T
XM_005254059.2:c.1456C>T	XP_005254116.1:p.Arg486Ter
XM_011521093.1:c.1456C>T	XP_011519395.1:p.Arg486Ter
XM_017020605.1:c.1456C>T	XP_016876094.1:p.Arg486Ter
XM_017020606.1:c.1378C>T	XP_016876095.1:p.Arg460Ter
XM_017020607.1:c.1357C>T	XP_016876096.1:p.Arg453Ter
XM_017020609.1:c.1357C>T	XP_016876098.1:p.Arg453Ter
XM_017020611.1:c.1456C>T	XP_016876100.1:p.Arg486Ter
XM_017020612.1:c.1456C>T	XP_016876101.1:p.Arg486Ter
XM_017020613.1:c.1456C>T	XP_016876102.1:p.Arg486Ter
XM_017020615.1:c.1456C>T	XP_016876104.1:p.Arg486Ter
XM_017020616.1:c.1456C>T	XP_016876105.1:p.Arg486Ter
XR_001749567.1:n.1557C>T
XR_001749568.1:n.1557C>T
XR_001749569.1:n.1557C>T
XR_001749574.1:n.1492C>T
XR_001749576.1:n.1193C>T
XR_001749577.1:n.1193C>T
XR_001749977.1:n.614-985G>A
XR_931615.1:n.1557C>T
XR_931677.1:n.543-985G>A
XR_931678.1:n.614-985G>A
XR_931680.1:n.614-985G>A