Canonical Allele Identifier: CA388696034

Gene: PCCA

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.100449306G>T , CM000675.2:g.100449306G>T	GRCh38
NC_000013.10:g.101101560G>T , CM000675.1:g.101101560G>T	GRCh37
NC_000013.9:g.99899561G>T	NCBI36
NG_008768.1:g.365224G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000282.4:c.1899+1G>T MANE Select	NP_000273.2:n.1899+1G>T
ENST00000376285.6:c.1899+1G>T MANE Select	ENSP00000365462.1:n.1899+1G>T
NM_000282.3:c.1899+1G>T	NP_000273.2:n.1899+1G>T
NM_001127692.2:c.1821+1G>T	NP_001121164.1:n.1821+1G>T
NM_001127692.3:c.1821+1G>T	NP_001121164.1:n.1821+1G>T
NM_001178004.1:c.1899+1G>T	NP_001171475.1:n.1899+1G>T
NM_001178004.2:c.1899+1G>T	NP_001171475.1:n.1899+1G>T
NM_001352605.1:c.1845+23575G>T	NP_001339534.1:n.1845+23575G>T
NM_001352605.2:c.1845+23575G>T	NP_001339534.1:n.1845+23575G>T
NM_001352606.1:c.1755+1G>T	NP_001339535.1:n.1755+1G>T
NM_001352606.2:c.1755+1G>T	NP_001339535.1:n.1755+1G>T
NM_001352607.1:c.1821+1G>T	NP_001339536.1:n.1821+1G>T
NM_001352607.2:c.1821+1G>T	NP_001339536.1:n.1821+1G>T
NM_001352608.1:c.1677+1G>T	NP_001339537.1:n.1677+1G>T
NM_001352608.2:c.1677+1G>T	NP_001339537.1:n.1677+1G>T
NM_001352609.1:c.1899+1G>T	NP_001339538.1:n.1899+1G>T
NM_001352609.2:c.1899+1G>T	NP_001339538.1:n.1899+1G>T
NM_001352610.1:c.954+1G>T	NP_001339539.1:n.954+1G>T
NM_001352610.2:c.954+1G>T	NP_001339539.1:n.954+1G>T
NM_001352611.1:c.900+23575G>T	NP_001339540.1:n.900+23575G>T
NM_001352611.2:c.900+23575G>T	NP_001339540.1:n.900+23575G>T
NM_001352612.1:c.810+1G>T	NP_001339541.1:n.810+1G>T
NM_001352612.2:c.810+1G>T	NP_001339541.1:n.810+1G>T
NR_148027.1:n.2089+1G>T
NR_148027.2:n.2011+1G>T
NR_148028.1:n.1986+1G>T
NR_148028.2:n.1908+1G>T
NR_148029.1:n.1908+1G>T
NR_148029.2:n.1830+1G>T
NR_148030.1:n.2089+1G>T
NR_148030.2:n.2011+1G>T
NR_148031.1:n.1902+1G>T
NR_148031.2:n.1824+1G>T
ENST00000376279.7:c.1899+1G>T	ENSP00000365456.3:n.1899+1G>T
ENST00000376285.5:c.1899+1G>T	ENSP00000365462.1:n.1899+1G>T
ENST00000376286.8:c.1821+1G>T	ENSP00000365463.4:n.1821+1G>T
ENST00000413170.1:c.229+1G>T
ENST00000458283.5:c.256+1G>T
ENST00000636366.1:c.1097+1G>T
ENST00000636475.1:c.1414+1G>T
ENST00000637657.1:c.1559+1G>T
ENST00000647303.1:c.*1383+1G>T	ENSP00000495663.1:n.*1383+1G>T
XM_005254059.2:c.1899+1G>T	XP_005254116.1:n.1899+1G>T
XM_011521093.1:c.1899+1G>T	XP_011519395.1:n.1899+1G>T
XM_017020605.1:c.1978+1G>T	XP_016876094.1:n.1978+1G>T
XM_017020606.1:c.1900+1G>T	XP_016876095.1:n.1900+1G>T
XM_017020607.1:c.1879+1G>T	XP_016876096.1:n.1879+1G>T
XM_017020609.1:c.1800+1G>T	XP_016876098.1:n.1800+1G>T
XM_017020611.1:c.1978+1G>T	XP_016876100.1:n.1978+1G>T
XM_017020612.1:c.1978+1G>T	XP_016876101.1:n.1978+1G>T
XM_017020613.1:c.1978+1G>T	XP_016876102.1:n.1978+1G>T
XR_001749567.1:n.2079+1G>T
XR_001749568.1:n.2166+1G>T
XR_001749569.1:n.2166+1G>T
XR_001749574.1:n.1935+1G>T
XR_001749576.1:n.1636+1G>T
XR_001749577.1:n.1533+1G>T
XR_931615.1:n.1897+1G>T