Canonical Allele Identifier: CA388640629

Gene: PCCA

Linked Data

• MyVariant Identifiers: chr13:g.101179954T>A (hg19) ; chr13:g.100527700T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.100527700T>A , CM000675.2:g.100527700T>A	GRCh38
NC_000013.10:g.101179954T>A , CM000675.1:g.101179954T>A	GRCh37
NC_000013.9:g.99977955T>A	NCBI36
NG_008768.1:g.443618T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000376285.6:c.2066T>A MANE Select	ENSP00000365462.1:p.Val689Glu
ENST00000636366.1:c.1264T>A
ENST00000636475.1:c.1581T>A
ENST00000637657.1:c.1726T>A
ENST00000647303.1:c.*1550T>A	ENSP00000495663.1:n.*1550T>A
ENST00000376279.7:c.1925T>A	ENSP00000365456.3:p.Val642Glu
ENST00000376285.5:c.2066T>A	ENSP00000365462.1:p.Val689Glu
ENST00000376286.8:c.1988T>A	ENSP00000365463.4:p.Val663Glu
ENST00000428969.1:c.215T>A	ENSP00000399413.1:p.Val72Glu
ENST00000458283.5:c.282T>A
NM_000282.3:c.2066T>A	NP_000273.2:p.Val689Glu
NM_001127692.2:c.1988T>A	NP_001121164.1:p.Val663Glu
NM_001178004.1:c.1925T>A	NP_001171475.1:p.Val642Glu
XR_931615.1:n.1923T>A
NM_001352605.1:c.2012T>A	NP_001339534.1:p.Val671Glu
NM_001352606.1:c.1922T>A	NP_001339535.1:p.Val641Glu
NM_001352607.1:c.1847T>A	NP_001339536.1:p.Val616Glu
NM_001352608.1:c.1844T>A	NP_001339537.1:p.Val615Glu
NM_001352610.1:c.1121T>A	NP_001339539.1:p.Val374Glu
NM_001352611.1:c.1067T>A	NP_001339540.1:p.Val356Glu
NM_001352612.1:c.977T>A	NP_001339541.1:p.Val326Glu
NR_148027.1:n.2115T>A
NR_148028.1:n.2153T>A
NR_148029.1:n.2075T>A
NR_148030.1:n.2256T>A
NR_148031.1:n.2069T>A
XM_017020609.1:c.1967T>A	XP_016876098.1:p.Val656Glu
XM_017020613.1:c.2004T>A	XP_016876102.1:p.Cys668Ter
XR_001749567.1:n.2246T>A
XR_001749568.1:n.2333T>A
XR_001749569.1:n.2192T>A
XR_001749574.1:n.2102T>A
XR_001749576.1:n.1803T>A
XR_001749577.1:n.1700T>A
NM_000282.4:c.2066T>A MANE Select	NP_000273.2:p.Val689Glu
NM_001352605.2:c.2012T>A	NP_001339534.1:p.Val671Glu
NM_001352606.2:c.1922T>A	NP_001339535.1:p.Val641Glu
NM_001352607.2:c.1847T>A	NP_001339536.1:p.Val616Glu
NM_001352608.2:c.1844T>A	NP_001339537.1:p.Val615Glu
NM_001352610.2:c.1121T>A	NP_001339539.1:p.Val374Glu
NM_001352611.2:c.1067T>A	NP_001339540.1:p.Val356Glu
NM_001352612.2:c.977T>A	NP_001339541.1:p.Val326Glu
NR_148027.2:n.2037T>A
NR_148028.2:n.2075T>A
NR_148029.2:n.1997T>A
NR_148030.2:n.2178T>A
NR_148031.2:n.1991T>A
NM_001127692.3:c.1988T>A	NP_001121164.1:p.Val663Glu
NM_001178004.2:c.1925T>A	NP_001171475.1:p.Val642Glu