Canonical Allele Identifier: CA2114130157

Gene: PCCA

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.100527694T= , CM000675.2:g.100527694T=	GRCh38
NC_000013.10:g.101179948T= , CM000675.1:g.101179948T=	GRCh37
NC_000013.9:g.99977949T=	NCBI36
NG_008768.1:g.443612T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376285.6:c.2060T= MANE Select	ENSP00000365462.1:p.Ile687=
ENST00000636366.1:c.1258T=
ENST00000636475.1:c.1575T=
ENST00000637657.1:c.1720T=
ENST00000647303.1:c.*1544T=	ENSP00000495663.1:n.*1544T=
ENST00000376279.7:c.1919T=	ENSP00000365456.3:p.Ile640=
ENST00000376285.5:c.2060T=	ENSP00000365462.1:p.Ile687=
ENST00000376286.8:c.1982T=	ENSP00000365463.4:p.Ile661=
ENST00000428969.1:c.209T=	ENSP00000399413.1:p.Ile70=
ENST00000458283.5:c.276T=
NM_000282.3:c.2060T=	NP_000273.2:p.Ile687=
NM_001127692.2:c.1982T=	NP_001121164.1:p.Ile661=
NM_001178004.1:c.1919T=	NP_001171475.1:p.Ile640=
XR_931615.1:n.1917T=
NM_001352605.1:c.2006T=	NP_001339534.1:p.Ile669=
NM_001352606.1:c.1916T=	NP_001339535.1:p.Ile639=
NM_001352607.1:c.1841T=	NP_001339536.1:p.Ile614=
NM_001352608.1:c.1838T=	NP_001339537.1:p.Ile613=
NM_001352610.1:c.1115T=	NP_001339539.1:p.Ile372=
NM_001352611.1:c.1061T=	NP_001339540.1:p.Ile354=
NM_001352612.1:c.971T=	NP_001339541.1:p.Ile324=
NR_148027.1:n.2109T=
NR_148028.1:n.2147T=
NR_148029.1:n.2069T=
NR_148030.1:n.2250T=
NR_148031.1:n.2063T=
XM_017020609.1:c.1961T=	XP_016876098.1:p.Ile654=
XM_017020613.1:c.1998T=	XP_016876102.1:p.Asn666=
XR_001749567.1:n.2240T=
XR_001749568.1:n.2327T=
XR_001749569.1:n.2186T=
XR_001749574.1:n.2096T=
XR_001749576.1:n.1797T=
XR_001749577.1:n.1694T=
NM_000282.4:c.2060T= MANE Select	NP_000273.2:p.Ile687=
NM_001352605.2:c.2006T=	NP_001339534.1:p.Ile669=
NM_001352606.2:c.1916T=	NP_001339535.1:p.Ile639=
NM_001352607.2:c.1841T=	NP_001339536.1:p.Ile614=
NM_001352608.2:c.1838T=	NP_001339537.1:p.Ile613=
NM_001352610.2:c.1115T=	NP_001339539.1:p.Ile372=
NM_001352611.2:c.1061T=	NP_001339540.1:p.Ile354=
NM_001352612.2:c.971T=	NP_001339541.1:p.Ile324=
NR_148027.2:n.2031T=
NR_148028.2:n.2069T=
NR_148029.2:n.1991T=
NR_148030.2:n.2172T=
NR_148031.2:n.1985T=
NM_001127692.3:c.1982T=	NP_001121164.1:p.Ile661=
NM_001178004.2:c.1919T=	NP_001171475.1:p.Ile640=