Canonical Allele Identifier: CA255366731

Gene: PCCA

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.100515524T>A , CM000675.2:g.100515524T>A	GRCh38
NC_000013.10:g.101167778T>A , CM000675.1:g.101167778T>A	GRCh37
NC_000013.9:g.99965779T>A	NCBI36
NG_008768.1:g.431442T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000282.4:c.1997T>A MANE Select	NP_000273.2:p.Met666Lys
ENST00000376285.6:c.1997T>A MANE Select	ENSP00000365462.1:p.Met666Lys
NM_000282.3:c.1997T>A	NP_000273.2:p.Met666Lys
NM_001127692.2:c.1919T>A	NP_001121164.1:p.Met640Lys
NM_001127692.3:c.1919T>A	NP_001121164.1:p.Met640Lys
NM_001178004.1:c.1900-12151T>A	NP_001171475.1:n.1900-12151T>A
NM_001178004.2:c.1900-12151T>A	NP_001171475.1:n.1900-12151T>A
NM_001352605.1:c.1943T>A	NP_001339534.1:p.Met648Lys
NM_001352605.2:c.1943T>A	NP_001339534.1:p.Met648Lys
NM_001352606.1:c.1853T>A	NP_001339535.1:p.Met618Lys
NM_001352606.2:c.1853T>A	NP_001339535.1:p.Met618Lys
NM_001352607.1:c.1822-12151T>A	NP_001339536.1:n.1822-12151T>A
NM_001352607.2:c.1822-12151T>A	NP_001339536.1:n.1822-12151T>A
NM_001352608.1:c.1775T>A	NP_001339537.1:p.Met592Lys
NM_001352608.2:c.1775T>A	NP_001339537.1:p.Met592Lys
NM_001352610.1:c.1052T>A	NP_001339539.1:p.Met351Lys
NM_001352610.2:c.1052T>A	NP_001339539.1:p.Met351Lys
NM_001352611.1:c.998T>A	NP_001339540.1:p.Met333Lys
NM_001352611.2:c.998T>A	NP_001339540.1:p.Met333Lys
NM_001352612.1:c.908T>A	NP_001339541.1:p.Met303Lys
NM_001352612.2:c.908T>A	NP_001339541.1:p.Met303Lys
NR_148027.1:n.2090-12151T>A
NR_148027.2:n.2012-12151T>A
NR_148028.1:n.2084T>A
NR_148028.2:n.2006T>A
NR_148029.1:n.2006T>A
NR_148029.2:n.1928T>A
NR_148030.1:n.2187T>A
NR_148030.2:n.2109T>A
NR_148031.1:n.2000T>A
NR_148031.2:n.1922T>A
ENST00000376279.7:c.1900-12151T>A	ENSP00000365456.3:n.1900-12151T>A
ENST00000376285.5:c.1997T>A	ENSP00000365462.1:p.Met666Lys
ENST00000376286.8:c.1919T>A	ENSP00000365463.4:p.Met640Lys
ENST00000428969.1:c.98T>A	ENSP00000399413.1:p.Met33Lys
ENST00000458283.5:c.257-12151T>A
ENST00000636366.1:c.1195T>A
ENST00000636475.1:c.1512T>A
ENST00000637657.1:c.1657T>A
ENST00000647303.1:c.*1481T>A	ENSP00000495663.1:n.*1481T>A
XM_017020609.1:c.1898T>A	XP_016876098.1:p.Met633Lys
XM_017020612.1:c.*30T>A	XP_016876101.1:n.*30T>A
XM_017020613.1:c.1979-12151T>A	XP_016876102.1:n.1979-12151T>A
XR_001749567.1:n.2177T>A
XR_001749568.1:n.2264T>A
XR_001749569.1:n.2167-12151T>A
XR_001749574.1:n.2033T>A
XR_001749576.1:n.1734T>A
XR_001749577.1:n.1631T>A
XR_931615.1:n.1898-12151T>A