Canonical Allele Identifier: CA388640644

Gene: PCCA

Linked Data

• MyVariant Identifiers: chr13:g.101179961A>T (hg19) ; chr13:g.100527707A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.100527707A>T , CM000675.2:g.100527707A>T	GRCh38
NC_000013.10:g.101179961A>T , CM000675.1:g.101179961A>T	GRCh37
NC_000013.9:g.99977962A>T	NCBI36
NG_008768.1:g.443625A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000376285.6:c.2073A>T MANE Select	ENSP00000365462.1:p.Glu691Asp
ENST00000636366.1:c.1271A>T
ENST00000636475.1:c.1588A>T
ENST00000637657.1:c.1733A>T
ENST00000647303.1:c.*1557A>T	ENSP00000495663.1:n.*1557A>T
ENST00000376279.7:c.1932A>T	ENSP00000365456.3:p.Glu644Asp
ENST00000376285.5:c.2073A>T	ENSP00000365462.1:p.Glu691Asp
ENST00000376286.8:c.1995A>T	ENSP00000365463.4:p.Glu665Asp
ENST00000428969.1:c.222A>T	ENSP00000399413.1:p.Glu74Asp
ENST00000458283.5:c.289A>T
NM_000282.3:c.2073A>T	NP_000273.2:p.Glu691Asp
NM_001127692.2:c.1995A>T	NP_001121164.1:p.Glu665Asp
NM_001178004.1:c.1932A>T	NP_001171475.1:p.Glu644Asp
XR_931615.1:n.1930A>T
NM_001352605.1:c.2019A>T	NP_001339534.1:p.Glu673Asp
NM_001352606.1:c.1929A>T	NP_001339535.1:p.Glu643Asp
NM_001352607.1:c.1854A>T	NP_001339536.1:p.Glu618Asp
NM_001352608.1:c.1851A>T	NP_001339537.1:p.Glu617Asp
NM_001352610.1:c.1128A>T	NP_001339539.1:p.Glu376Asp
NM_001352611.1:c.1074A>T	NP_001339540.1:p.Glu358Asp
NM_001352612.1:c.984A>T	NP_001339541.1:p.Glu328Asp
NR_148027.1:n.2122A>T
NR_148028.1:n.2160A>T
NR_148029.1:n.2082A>T
NR_148030.1:n.2263A>T
NR_148031.1:n.2076A>T
XM_017020609.1:c.1974A>T	XP_016876098.1:p.Glu658Asp
XM_017020613.1:c.*1A>T	XP_016876102.1:n.*1A>T
XR_001749567.1:n.2253A>T
XR_001749568.1:n.2340A>T
XR_001749569.1:n.2199A>T
XR_001749574.1:n.2109A>T
XR_001749576.1:n.1810A>T
XR_001749577.1:n.1707A>T
NM_000282.4:c.2073A>T MANE Select	NP_000273.2:p.Glu691Asp
NM_001352605.2:c.2019A>T	NP_001339534.1:p.Glu673Asp
NM_001352606.2:c.1929A>T	NP_001339535.1:p.Glu643Asp
NM_001352607.2:c.1854A>T	NP_001339536.1:p.Glu618Asp
NM_001352608.2:c.1851A>T	NP_001339537.1:p.Glu617Asp
NM_001352610.2:c.1128A>T	NP_001339539.1:p.Glu376Asp
NM_001352611.2:c.1074A>T	NP_001339540.1:p.Glu358Asp
NM_001352612.2:c.984A>T	NP_001339541.1:p.Glu328Asp
NR_148027.2:n.2044A>T
NR_148028.2:n.2082A>T
NR_148029.2:n.2004A>T
NR_148030.2:n.2185A>T
NR_148031.2:n.1998A>T
NM_001127692.3:c.1995A>T	NP_001121164.1:p.Glu665Asp
NM_001178004.2:c.1932A>T	NP_001171475.1:p.Glu644Asp