Canonical Allele Identifier: CA388640626

Gene: PCCA

Linked Data

• MyVariant Identifiers: chr13:g.101179953G>A (hg19) ; chr13:g.100527699G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.100527699G>A , CM000675.2:g.100527699G>A	GRCh38
NC_000013.10:g.101179953G>A , CM000675.1:g.101179953G>A	GRCh37
NC_000013.9:g.99977954G>A	NCBI36
NG_008768.1:g.443617G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000376285.6:c.2065G>A MANE Select	ENSP00000365462.1:p.Val689Met
ENST00000636366.1:c.1263G>A
ENST00000636475.1:c.1580G>A
ENST00000637657.1:c.1725G>A
ENST00000647303.1:c.*1549G>A	ENSP00000495663.1:n.*1549G>A
ENST00000376279.7:c.1924G>A	ENSP00000365456.3:p.Val642Met
ENST00000376285.5:c.2065G>A	ENSP00000365462.1:p.Val689Met
ENST00000376286.8:c.1987G>A	ENSP00000365463.4:p.Val663Met
ENST00000428969.1:c.214G>A	ENSP00000399413.1:p.Val72Met
ENST00000458283.5:c.281G>A
NM_000282.3:c.2065G>A	NP_000273.2:p.Val689Met
NM_001127692.2:c.1987G>A	NP_001121164.1:p.Val663Met
NM_001178004.1:c.1924G>A	NP_001171475.1:p.Val642Met
XR_931615.1:n.1922G>A
NM_001352605.1:c.2011G>A	NP_001339534.1:p.Val671Met
NM_001352606.1:c.1921G>A	NP_001339535.1:p.Val641Met
NM_001352607.1:c.1846G>A	NP_001339536.1:p.Val616Met
NM_001352608.1:c.1843G>A	NP_001339537.1:p.Val615Met
NM_001352610.1:c.1120G>A	NP_001339539.1:p.Val374Met
NM_001352611.1:c.1066G>A	NP_001339540.1:p.Val356Met
NM_001352612.1:c.976G>A	NP_001339541.1:p.Val326Met
NR_148027.1:n.2114G>A
NR_148028.1:n.2152G>A
NR_148029.1:n.2074G>A
NR_148030.1:n.2255G>A
NR_148031.1:n.2068G>A
XM_017020609.1:c.1966G>A	XP_016876098.1:p.Val656Met
XM_017020613.1:c.2003G>A	XP_016876102.1:p.Cys668Tyr
XR_001749567.1:n.2245G>A
XR_001749568.1:n.2332G>A
XR_001749569.1:n.2191G>A
XR_001749574.1:n.2101G>A
XR_001749576.1:n.1802G>A
XR_001749577.1:n.1699G>A
NM_000282.4:c.2065G>A MANE Select	NP_000273.2:p.Val689Met
NM_001352605.2:c.2011G>A	NP_001339534.1:p.Val671Met
NM_001352606.2:c.1921G>A	NP_001339535.1:p.Val641Met
NM_001352607.2:c.1846G>A	NP_001339536.1:p.Val616Met
NM_001352608.2:c.1843G>A	NP_001339537.1:p.Val615Met
NM_001352610.2:c.1120G>A	NP_001339539.1:p.Val374Met
NM_001352611.2:c.1066G>A	NP_001339540.1:p.Val356Met
NM_001352612.2:c.976G>A	NP_001339541.1:p.Val326Met
NR_148027.2:n.2036G>A
NR_148028.2:n.2074G>A
NR_148029.2:n.1996G>A
NR_148030.2:n.2177G>A
NR_148031.2:n.1990G>A
NM_001127692.3:c.1987G>A	NP_001121164.1:p.Val663Met
NM_001178004.2:c.1924G>A	NP_001171475.1:p.Val642Met