Canonical Allele Identifier: CA484534605

Gene: PCCA

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.100515480G>C , CM000675.2:g.100515480G>C	GRCh38
NC_000013.10:g.101167734G>C , CM000675.1:g.101167734G>C	GRCh37
NC_000013.9:g.99965735G>C	NCBI36
NG_008768.1:g.431398G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000282.4:c.1953G>C MANE Select	NP_000273.2:p.Leu651=
ENST00000376285.6:c.1953G>C MANE Select	ENSP00000365462.1:p.Leu651=
NM_000282.3:c.1953G>C	NP_000273.2:p.Leu651=
NM_001127692.2:c.1875G>C	NP_001121164.1:p.Leu625=
NM_001127692.3:c.1875G>C	NP_001121164.1:p.Leu625=
NM_001178004.1:c.1900-12195G>C	NP_001171475.1:n.1900-12195G>C
NM_001178004.2:c.1900-12195G>C	NP_001171475.1:n.1900-12195G>C
NM_001352605.1:c.1899G>C	NP_001339534.1:p.Leu633=
NM_001352605.2:c.1899G>C	NP_001339534.1:p.Leu633=
NM_001352606.1:c.1809G>C	NP_001339535.1:p.Leu603=
NM_001352606.2:c.1809G>C	NP_001339535.1:p.Leu603=
NM_001352607.1:c.1822-12195G>C	NP_001339536.1:n.1822-12195G>C
NM_001352607.2:c.1822-12195G>C	NP_001339536.1:n.1822-12195G>C
NM_001352608.1:c.1731G>C	NP_001339537.1:p.Leu577=
NM_001352608.2:c.1731G>C	NP_001339537.1:p.Leu577=
NM_001352610.1:c.1008G>C	NP_001339539.1:p.Leu336=
NM_001352610.2:c.1008G>C	NP_001339539.1:p.Leu336=
NM_001352611.1:c.954G>C	NP_001339540.1:p.Leu318=
NM_001352611.2:c.954G>C	NP_001339540.1:p.Leu318=
NM_001352612.1:c.864G>C	NP_001339541.1:p.Leu288=
NM_001352612.2:c.864G>C	NP_001339541.1:p.Leu288=
NR_148027.1:n.2090-12195G>C
NR_148027.2:n.2012-12195G>C
NR_148028.1:n.2040G>C
NR_148028.2:n.1962G>C
NR_148029.1:n.1962G>C
NR_148029.2:n.1884G>C
NR_148030.1:n.2143G>C
NR_148030.2:n.2065G>C
NR_148031.1:n.1956G>C
NR_148031.2:n.1878G>C
ENST00000376279.7:c.1900-12195G>C	ENSP00000365456.3:n.1900-12195G>C
ENST00000376285.5:c.1953G>C	ENSP00000365462.1:p.Leu651=
ENST00000376286.8:c.1875G>C	ENSP00000365463.4:p.Leu625=
ENST00000428969.1:c.54G>C	ENSP00000399413.1:p.Leu18=
ENST00000458283.5:c.257-12195G>C
ENST00000636366.1:c.1151G>C
ENST00000636475.1:c.1468G>C
ENST00000637657.1:c.1613G>C
ENST00000647303.1:c.*1437G>C	ENSP00000495663.1:n.*1437G>C
XM_017020609.1:c.1854G>C	XP_016876098.1:p.Leu618=
XM_017020612.1:c.2032G>C	XP_016876101.1:p.Gly678Arg
XM_017020613.1:c.1979-12195G>C	XP_016876102.1:n.1979-12195G>C
XR_001749567.1:n.2133G>C
XR_001749568.1:n.2220G>C
XR_001749569.1:n.2167-12195G>C
XR_001749574.1:n.1989G>C
XR_001749576.1:n.1690G>C
XR_001749577.1:n.1587G>C
XR_931615.1:n.1898-12195G>C