Canonical Allele Identifier: CA388641145

Gene: PCCA

Linked Data

• MyVariant Identifiers: chr13:g.101182413T>G (hg19) ; chr13:g.100530159T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.100530159T>G , CM000675.2:g.100530159T>G	GRCh38
NC_000013.10:g.101182413T>G , CM000675.1:g.101182413T>G	GRCh37
NC_000013.9:g.99980414T>G	NCBI36
NG_008768.1:g.446077T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376285.6:c.2180T>G MANE Select	ENSP00000365462.1:p.Leu727Arg
ENST00000636366.1:c.1378T>G
ENST00000636475.1:c.1695T>G
ENST00000637657.1:c.1840T>G
ENST00000647303.1:c.*1664T>G	ENSP00000495663.1:n.*1664T>G
ENST00000376279.7:c.2039T>G	ENSP00000365456.3:p.Leu680Arg
ENST00000376285.5:c.2180T>G	ENSP00000365462.1:p.Leu727Arg
ENST00000376286.8:c.2102T>G	ENSP00000365463.4:p.Leu701Arg
ENST00000428969.1:c.329T>G	ENSP00000399413.1:p.Leu110Arg
ENST00000458283.5:c.396T>G
NM_000282.3:c.2180T>G	NP_000273.2:p.Leu727Arg
NM_001127692.2:c.2102T>G	NP_001121164.1:p.Leu701Arg
NM_001178004.1:c.2039T>G	NP_001171475.1:p.Leu680Arg
XR_931615.1:n.2037T>G
NM_001352605.1:c.2126T>G	NP_001339534.1:p.Leu709Arg
NM_001352606.1:c.2036T>G	NP_001339535.1:p.Leu679Arg
NM_001352607.1:c.1961T>G	NP_001339536.1:p.Leu654Arg
NM_001352608.1:c.1958T>G	NP_001339537.1:p.Leu653Arg
NM_001352610.1:c.1235T>G	NP_001339539.1:p.Leu412Arg
NM_001352611.1:c.1181T>G	NP_001339540.1:p.Leu394Arg
NM_001352612.1:c.1091T>G	NP_001339541.1:p.Leu364Arg
NR_148027.1:n.2229T>G
NR_148028.1:n.2267T>G
NR_148029.1:n.2189T>G
NR_148030.1:n.2370T>G
NR_148031.1:n.2183T>G
XM_017020609.1:c.2081T>G	XP_016876098.1:p.Leu694Arg
XM_017020613.1:c.*108T>G	XP_016876102.1:n.*108T>G
XR_001749567.1:n.2360T>G
XR_001749568.1:n.2447T>G
XR_001749569.1:n.2306T>G
XR_001749576.1:n.1917T>G
XR_001749577.1:n.1814T>G
NM_000282.4:c.2180T>G MANE Select	NP_000273.2:p.Leu727Arg
NM_001352605.2:c.2126T>G	NP_001339534.1:p.Leu709Arg
NM_001352606.2:c.2036T>G	NP_001339535.1:p.Leu679Arg
NM_001352607.2:c.1961T>G	NP_001339536.1:p.Leu654Arg
NM_001352608.2:c.1958T>G	NP_001339537.1:p.Leu653Arg
NM_001352610.2:c.1235T>G	NP_001339539.1:p.Leu412Arg
NM_001352611.2:c.1181T>G	NP_001339540.1:p.Leu394Arg
NM_001352612.2:c.1091T>G	NP_001339541.1:p.Leu364Arg
NR_148027.2:n.2151T>G
NR_148028.2:n.2189T>G
NR_148029.2:n.2111T>G
NR_148030.2:n.2292T>G
NR_148031.2:n.2105T>G
NM_001127692.3:c.2102T>G	NP_001121164.1:p.Leu701Arg
NM_001178004.2:c.2039T>G	NP_001171475.1:p.Leu680Arg