Canonical Allele Identifier: CA388695800

Gene: PCCA

Linked Data

• ClinVar Variation Id: 2095456
• ClinVar RCV Id: RCV003012341
• MyVariant Identifiers: chr13:g.100962114G>A (hg19) ; chr13:g.100309860G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.100309860G>A , CM000675.2:g.100309860G>A	GRCh38
NC_000013.10:g.100962114G>A , CM000675.1:g.100962114G>A	GRCh37
NC_000013.9:g.99760115G>A	NCBI36
NG_008768.1:g.225778G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376285.6:c.1381G>A MANE Select	ENSP00000365462.1:p.Glu461Lys
ENST00000636366.1:c.944+36514G>A
ENST00000636420.1:c.1258G>A
ENST00000636475.1:c.945-20701G>A
ENST00000637657.1:c.1041G>A
ENST00000647303.1:c.*914-20701G>A	ENSP00000495663.1:n.*914-20701G>A
ENST00000376279.7:c.1381G>A	ENSP00000365456.3:p.Glu461Lys
ENST00000376285.5:c.1381G>A	ENSP00000365462.1:p.Glu461Lys
ENST00000376286.8:c.1303G>A	ENSP00000365463.4:p.Glu435Lys
ENST00000424527.5:c.31+16606G>A	ENSP00000396050.1:n.31+16606G>A
ENST00000443601.1:c.156G>A
NM_000282.3:c.1381G>A	NP_000273.2:p.Glu461Lys
NM_001127692.2:c.1303G>A	NP_001121164.1:p.Glu435Lys
NM_001178004.1:c.1381G>A	NP_001171475.1:p.Glu461Lys
XM_005254059.2:c.1381G>A	XP_005254116.1:p.Glu461Lys
XM_011521093.1:c.1381G>A	XP_011519395.1:p.Glu461Lys
XR_931615.1:n.1482G>A
NM_001352605.1:c.1381G>A	NP_001339534.1:p.Glu461Lys
NM_001352606.1:c.1237G>A	NP_001339535.1:p.Glu413Lys
NM_001352607.1:c.1303G>A	NP_001339536.1:p.Glu435Lys
NM_001352608.1:c.1159G>A	NP_001339537.1:p.Glu387Lys
NM_001352609.1:c.1381G>A	NP_001339538.1:p.Glu461Lys
NM_001352610.1:c.436G>A	NP_001339539.1:p.Glu146Lys
NM_001352611.1:c.436G>A	NP_001339540.1:p.Glu146Lys
NM_001352612.1:c.292G>A	NP_001339541.1:p.Glu98Lys
NR_148027.1:n.1571G>A
NR_148028.1:n.1571G>A
NR_148029.1:n.1493G>A
NR_148030.1:n.1571G>A
NR_148031.1:n.1487G>A
XM_017020605.1:c.1381G>A	XP_016876094.1:p.Glu461Lys
XM_017020606.1:c.1303G>A	XP_016876095.1:p.Glu435Lys
XM_017020607.1:c.1282G>A	XP_016876096.1:p.Glu428Lys
XM_017020609.1:c.1282G>A	XP_016876098.1:p.Glu428Lys
XM_017020611.1:c.1381G>A	XP_016876100.1:p.Glu461Lys
XM_017020612.1:c.1381G>A	XP_016876101.1:p.Glu461Lys
XM_017020613.1:c.1381G>A	XP_016876102.1:p.Glu461Lys
XM_017020615.1:c.1381G>A	XP_016876104.1:p.Glu461Lys
XM_017020616.1:c.1381G>A	XP_016876105.1:p.Glu461Lys
XR_001749567.1:n.1482G>A
XR_001749568.1:n.1482G>A
XR_001749569.1:n.1482G>A
XR_001749574.1:n.1417G>A
XR_001749576.1:n.1167-20701G>A
XR_001749577.1:n.1167-20701G>A
NM_000282.4:c.1381G>A MANE Select	NP_000273.2:p.Glu461Lys
NM_001352605.2:c.1381G>A	NP_001339534.1:p.Glu461Lys
NM_001352606.2:c.1237G>A	NP_001339535.1:p.Glu413Lys
NM_001352607.2:c.1303G>A	NP_001339536.1:p.Glu435Lys
NM_001352608.2:c.1159G>A	NP_001339537.1:p.Glu387Lys
NM_001352609.2:c.1381G>A	NP_001339538.1:p.Glu461Lys
NM_001352610.2:c.436G>A	NP_001339539.1:p.Glu146Lys
NM_001352611.2:c.436G>A	NP_001339540.1:p.Glu146Lys
NM_001352612.2:c.292G>A	NP_001339541.1:p.Glu98Lys
NR_148027.2:n.1493G>A
NR_148028.2:n.1493G>A
NR_148029.2:n.1415G>A
NR_148030.2:n.1493G>A
NR_148031.2:n.1409G>A
NM_001127692.3:c.1303G>A	NP_001121164.1:p.Glu435Lys
NM_001178004.2:c.1381G>A	NP_001171475.1:p.Glu461Lys