Canonical Allele Identifier: CA388640637

Gene: PCCA

Linked Data

• dbSNP Id: rs1223456413
• gnomAD v2: 13-101179959-G-A
• MyVariant Identifiers: chr13:g.101179959G>A (hg19) ; chr13:g.100527705G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.100527705G>A , CM000675.2:g.100527705G>A	GRCh38
NC_000013.10:g.101179959G>A , CM000675.1:g.101179959G>A	GRCh37
NC_000013.9:g.99977960G>A	NCBI36
NG_008768.1:g.443623G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000376285.6:c.2071G>A MANE Select	ENSP00000365462.1:p.Glu691Lys
ENST00000636366.1:c.1269G>A
ENST00000636475.1:c.1586G>A
ENST00000637657.1:c.1731G>A
ENST00000647303.1:c.*1555G>A	ENSP00000495663.1:n.*1555G>A
ENST00000376279.7:c.1930G>A	ENSP00000365456.3:p.Glu644Lys
ENST00000376285.5:c.2071G>A	ENSP00000365462.1:p.Glu691Lys
ENST00000376286.8:c.1993G>A	ENSP00000365463.4:p.Glu665Lys
ENST00000428969.1:c.220G>A	ENSP00000399413.1:p.Glu74Lys
ENST00000458283.5:c.287G>A
NM_000282.3:c.2071G>A	NP_000273.2:p.Glu691Lys
NM_001127692.2:c.1993G>A	NP_001121164.1:p.Glu665Lys
NM_001178004.1:c.1930G>A	NP_001171475.1:p.Glu644Lys
XR_931615.1:n.1928G>A
NM_001352605.1:c.2017G>A	NP_001339534.1:p.Glu673Lys
NM_001352606.1:c.1927G>A	NP_001339535.1:p.Glu643Lys
NM_001352607.1:c.1852G>A	NP_001339536.1:p.Glu618Lys
NM_001352608.1:c.1849G>A	NP_001339537.1:p.Glu617Lys
NM_001352610.1:c.1126G>A	NP_001339539.1:p.Glu376Lys
NM_001352611.1:c.1072G>A	NP_001339540.1:p.Glu358Lys
NM_001352612.1:c.982G>A	NP_001339541.1:p.Glu328Lys
NR_148027.1:n.2120G>A
NR_148028.1:n.2158G>A
NR_148029.1:n.2080G>A
NR_148030.1:n.2261G>A
NR_148031.1:n.2074G>A
XM_017020609.1:c.1972G>A	XP_016876098.1:p.Glu658Lys
XM_017020613.1:c.2009G>A	XP_016876102.1:p.Ter670=
XR_001749567.1:n.2251G>A
XR_001749568.1:n.2338G>A
XR_001749569.1:n.2197G>A
XR_001749574.1:n.2107G>A
XR_001749576.1:n.1808G>A
XR_001749577.1:n.1705G>A
NM_000282.4:c.2071G>A MANE Select	NP_000273.2:p.Glu691Lys
NM_001352605.2:c.2017G>A	NP_001339534.1:p.Glu673Lys
NM_001352606.2:c.1927G>A	NP_001339535.1:p.Glu643Lys
NM_001352607.2:c.1852G>A	NP_001339536.1:p.Glu618Lys
NM_001352608.2:c.1849G>A	NP_001339537.1:p.Glu617Lys
NM_001352610.2:c.1126G>A	NP_001339539.1:p.Glu376Lys
NM_001352611.2:c.1072G>A	NP_001339540.1:p.Glu358Lys
NM_001352612.2:c.982G>A	NP_001339541.1:p.Glu328Lys
NR_148027.2:n.2042G>A
NR_148028.2:n.2080G>A
NR_148029.2:n.2002G>A
NR_148030.2:n.2183G>A
NR_148031.2:n.1996G>A
NM_001127692.3:c.1993G>A	NP_001121164.1:p.Glu665Lys
NM_001178004.2:c.1930G>A	NP_001171475.1:p.Glu644Lys