Canonical Allele Identifier: CA388640627

Gene: PCCA

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000376285.6:c.2065G>C MANE Select	ENSP00000365462.1:p.Val689Leu
ENST00000636366.1:c.1263G>C
ENST00000636475.1:c.1580G>C
ENST00000637657.1:c.1725G>C
ENST00000647303.1:c.*1549G>C	ENSP00000495663.1:n.*1549G>C
ENST00000376279.7:c.1924G>C	ENSP00000365456.3:p.Val642Leu
ENST00000376285.5:c.2065G>C	ENSP00000365462.1:p.Val689Leu
ENST00000376286.8:c.1987G>C	ENSP00000365463.4:p.Val663Leu
ENST00000428969.1:c.214G>C	ENSP00000399413.1:p.Val72Leu
ENST00000458283.5:c.281G>C
NM_000282.3:c.2065G>C	NP_000273.2:p.Val689Leu
NM_001127692.2:c.1987G>C	NP_001121164.1:p.Val663Leu
NM_001178004.1:c.1924G>C	NP_001171475.1:p.Val642Leu
XR_931615.1:n.1922G>C
NM_001352605.1:c.2011G>C	NP_001339534.1:p.Val671Leu
NM_001352606.1:c.1921G>C	NP_001339535.1:p.Val641Leu
NM_001352607.1:c.1846G>C	NP_001339536.1:p.Val616Leu
NM_001352608.1:c.1843G>C	NP_001339537.1:p.Val615Leu
NM_001352610.1:c.1120G>C	NP_001339539.1:p.Val374Leu
NM_001352611.1:c.1066G>C	NP_001339540.1:p.Val356Leu
NM_001352612.1:c.976G>C	NP_001339541.1:p.Val326Leu
NR_148027.1:n.2114G>C
NR_148028.1:n.2152G>C
NR_148029.1:n.2074G>C
NR_148030.1:n.2255G>C
NR_148031.1:n.2068G>C
XM_017020609.1:c.1966G>C	XP_016876098.1:p.Val656Leu
XM_017020613.1:c.2003G>C	XP_016876102.1:p.Cys668Ser
XR_001749567.1:n.2245G>C
XR_001749568.1:n.2332G>C
XR_001749569.1:n.2191G>C
XR_001749574.1:n.2101G>C
XR_001749576.1:n.1802G>C
XR_001749577.1:n.1699G>C
NM_000282.4:c.2065G>C MANE Select	NP_000273.2:p.Val689Leu
NM_001352605.2:c.2011G>C	NP_001339534.1:p.Val671Leu
NM_001352606.2:c.1921G>C	NP_001339535.1:p.Val641Leu
NM_001352607.2:c.1846G>C	NP_001339536.1:p.Val616Leu
NM_001352608.2:c.1843G>C	NP_001339537.1:p.Val615Leu
NM_001352610.2:c.1120G>C	NP_001339539.1:p.Val374Leu
NM_001352611.2:c.1066G>C	NP_001339540.1:p.Val356Leu
NM_001352612.2:c.976G>C	NP_001339541.1:p.Val326Leu
NR_148027.2:n.2036G>C
NR_148028.2:n.2074G>C
NR_148029.2:n.1996G>C
NR_148030.2:n.2177G>C
NR_148031.2:n.1990G>C
NM_001127692.3:c.1987G>C	NP_001121164.1:p.Val663Leu
NM_001178004.2:c.1924G>C	NP_001171475.1:p.Val642Leu