Canonical Allele Identifier: CA388696047

Gene: PCCA

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.100330561G>T , CM000675.2:g.100330561G>T	GRCh38
NC_000013.10:g.100982815G>T , CM000675.1:g.100982815G>T	GRCh37
NC_000013.9:g.99780816G>T	NCBI36
NG_008768.1:g.246479G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000282.4:c.1430G>T MANE Select	NP_000273.2:p.Gly477Val
ENST00000376285.6:c.1430G>T MANE Select	ENSP00000365462.1:p.Gly477Val
NM_000282.3:c.1430G>T	NP_000273.2:p.Gly477Val
NM_001127692.2:c.1352G>T	NP_001121164.1:p.Gly451Val
NM_001127692.3:c.1352G>T	NP_001121164.1:p.Gly451Val
NM_001178004.1:c.1430G>T	NP_001171475.1:p.Gly477Val
NM_001178004.2:c.1430G>T	NP_001171475.1:p.Gly477Val
NM_001352605.1:c.1430G>T	NP_001339534.1:p.Gly477Val
NM_001352605.2:c.1430G>T	NP_001339534.1:p.Gly477Val
NM_001352606.1:c.1286G>T	NP_001339535.1:p.Gly429Val
NM_001352606.2:c.1286G>T	NP_001339535.1:p.Gly429Val
NM_001352607.1:c.1352G>T	NP_001339536.1:p.Gly451Val
NM_001352607.2:c.1352G>T	NP_001339536.1:p.Gly451Val
NM_001352608.1:c.1208G>T	NP_001339537.1:p.Gly403Val
NM_001352608.2:c.1208G>T	NP_001339537.1:p.Gly403Val
NM_001352609.1:c.1430G>T	NP_001339538.1:p.Gly477Val
NM_001352609.2:c.1430G>T	NP_001339538.1:p.Gly477Val
NM_001352610.1:c.485G>T	NP_001339539.1:p.Gly162Val
NM_001352610.2:c.485G>T	NP_001339539.1:p.Gly162Val
NM_001352611.1:c.485G>T	NP_001339540.1:p.Gly162Val
NM_001352611.2:c.485G>T	NP_001339540.1:p.Gly162Val
NM_001352612.1:c.341G>T	NP_001339541.1:p.Gly114Val
NM_001352612.2:c.341G>T	NP_001339541.1:p.Gly114Val
NR_148027.1:n.1620G>T
NR_148027.2:n.1542G>T
NR_148028.1:n.1620G>T
NR_148028.2:n.1542G>T
NR_148029.1:n.1542G>T
NR_148029.2:n.1464G>T
NR_148030.1:n.1620G>T
NR_148030.2:n.1542G>T
NR_148031.1:n.1536G>T
NR_148031.2:n.1458G>T
ENST00000376279.7:c.1430G>T	ENSP00000365456.3:p.Gly477Val
ENST00000376285.5:c.1430G>T	ENSP00000365462.1:p.Gly477Val
ENST00000376286.8:c.1352G>T	ENSP00000365463.4:p.Gly451Val
ENST00000424527.5:c.32G>T	ENSP00000396050.1:p.Gly11Val
ENST00000443601.1:c.205G>T
ENST00000636366.1:c.944+57215G>T
ENST00000636420.1:c.1307G>T
ENST00000636475.1:c.945G>T
ENST00000637657.1:c.1090G>T
ENST00000647303.1:c.*914G>T	ENSP00000495663.1:n.*914G>T
XM_005254059.2:c.1430G>T	XP_005254116.1:p.Gly477Val
XM_011521093.1:c.1430G>T	XP_011519395.1:p.Gly477Val
XM_017020605.1:c.1430G>T	XP_016876094.1:p.Gly477Val
XM_017020606.1:c.1352G>T	XP_016876095.1:p.Gly451Val
XM_017020607.1:c.1331G>T	XP_016876096.1:p.Gly444Val
XM_017020609.1:c.1331G>T	XP_016876098.1:p.Gly444Val
XM_017020611.1:c.1430G>T	XP_016876100.1:p.Gly477Val
XM_017020612.1:c.1430G>T	XP_016876101.1:p.Gly477Val
XM_017020613.1:c.1430G>T	XP_016876102.1:p.Gly477Val
XM_017020615.1:c.1430G>T	XP_016876104.1:p.Gly477Val
XM_017020616.1:c.1430G>T	XP_016876105.1:p.Gly477Val
XR_001749567.1:n.1531G>T
XR_001749568.1:n.1531G>T
XR_001749569.1:n.1531G>T
XR_001749574.1:n.1466G>T
XR_001749576.1:n.1167G>T
XR_001749577.1:n.1167G>T
XR_001749977.1:n.614-959C>A
XR_931615.1:n.1531G>T
XR_931677.1:n.543-959C>A
XR_931678.1:n.614-959C>A
XR_931680.1:n.614-959C>A