Canonical Allele Identifier: CA388641154

Gene: PCCA

Linked Data

• dbSNP Id: rs2088297632
• MyVariant Identifiers: chr13:g.101182417A>T (hg19) ; chr13:g.100530163A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.100530163A>T , CM000675.2:g.100530163A>T	GRCh38
NC_000013.10:g.101182417A>T , CM000675.1:g.101182417A>T	GRCh37
NC_000013.9:g.99980418A>T	NCBI36
NG_008768.1:g.446081A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376285.6:c.2184A>T MANE Select	ENSP00000365462.1:p.Glu728Asp
ENST00000636366.1:c.1382A>T
ENST00000636475.1:c.1699A>T
ENST00000637657.1:c.1844A>T
ENST00000647303.1:c.*1668A>T	ENSP00000495663.1:n.*1668A>T
ENST00000376279.7:c.2043A>T	ENSP00000365456.3:p.Glu681Asp
ENST00000376285.5:c.2184A>T	ENSP00000365462.1:p.Glu728Asp
ENST00000376286.8:c.2106A>T	ENSP00000365463.4:p.Glu702Asp
ENST00000428969.1:c.333A>T	ENSP00000399413.1:p.Glu111Asp
ENST00000458283.5:c.400A>T
NM_000282.3:c.2184A>T	NP_000273.2:p.Glu728Asp
NM_001127692.2:c.2106A>T	NP_001121164.1:p.Glu702Asp
NM_001178004.1:c.2043A>T	NP_001171475.1:p.Glu681Asp
XR_931615.1:n.2041A>T
NM_001352605.1:c.2130A>T	NP_001339534.1:p.Glu710Asp
NM_001352606.1:c.2040A>T	NP_001339535.1:p.Glu680Asp
NM_001352607.1:c.1965A>T	NP_001339536.1:p.Glu655Asp
NM_001352608.1:c.1962A>T	NP_001339537.1:p.Glu654Asp
NM_001352610.1:c.1239A>T	NP_001339539.1:p.Glu413Asp
NM_001352611.1:c.1185A>T	NP_001339540.1:p.Glu395Asp
NM_001352612.1:c.1095A>T	NP_001339541.1:p.Glu365Asp
NR_148027.1:n.2233A>T
NR_148028.1:n.2271A>T
NR_148029.1:n.2193A>T
NR_148030.1:n.2374A>T
NR_148031.1:n.2187A>T
XM_017020609.1:c.2085A>T	XP_016876098.1:p.Glu695Asp
XM_017020613.1:c.*112A>T	XP_016876102.1:n.*112A>T
XR_001749567.1:n.2364A>T
XR_001749568.1:n.2451A>T
XR_001749569.1:n.2310A>T
XR_001749576.1:n.1921A>T
XR_001749577.1:n.1818A>T
NM_000282.4:c.2184A>T MANE Select	NP_000273.2:p.Glu728Asp
NM_001352605.2:c.2130A>T	NP_001339534.1:p.Glu710Asp
NM_001352606.2:c.2040A>T	NP_001339535.1:p.Glu680Asp
NM_001352607.2:c.1965A>T	NP_001339536.1:p.Glu655Asp
NM_001352608.2:c.1962A>T	NP_001339537.1:p.Glu654Asp
NM_001352610.2:c.1239A>T	NP_001339539.1:p.Glu413Asp
NM_001352611.2:c.1185A>T	NP_001339540.1:p.Glu395Asp
NM_001352612.2:c.1095A>T	NP_001339541.1:p.Glu365Asp
NR_148027.2:n.2155A>T
NR_148028.2:n.2193A>T
NR_148029.2:n.2115A>T
NR_148030.2:n.2296A>T
NR_148031.2:n.2109A>T
NM_001127692.3:c.2106A>T	NP_001121164.1:p.Glu702Asp
NM_001178004.2:c.2043A>T	NP_001171475.1:p.Glu681Asp