Canonical Allele Identifier: CA388640646

Gene: PCCA

Linked Data

• MyVariant Identifiers: chr13:g.101179962G>A (hg19) ; chr13:g.100527708G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.100527708G>A , CM000675.2:g.100527708G>A	GRCh38
NC_000013.10:g.101179962G>A , CM000675.1:g.101179962G>A	GRCh37
NC_000013.9:g.99977963G>A	NCBI36
NG_008768.1:g.443626G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000376285.6:c.2074G>A MANE Select	ENSP00000365462.1:p.Ala692Thr
ENST00000636366.1:c.1272G>A
ENST00000636475.1:c.1589G>A
ENST00000637657.1:c.1734G>A
ENST00000647303.1:c.*1558G>A	ENSP00000495663.1:n.*1558G>A
ENST00000376279.7:c.1933G>A	ENSP00000365456.3:p.Ala645Thr
ENST00000376285.5:c.2074G>A	ENSP00000365462.1:p.Ala692Thr
ENST00000376286.8:c.1996G>A	ENSP00000365463.4:p.Ala666Thr
ENST00000428969.1:c.223G>A	ENSP00000399413.1:p.Ala75Thr
ENST00000458283.5:c.290G>A
NM_000282.3:c.2074G>A	NP_000273.2:p.Ala692Thr
NM_001127692.2:c.1996G>A	NP_001121164.1:p.Ala666Thr
NM_001178004.1:c.1933G>A	NP_001171475.1:p.Ala645Thr
XR_931615.1:n.1931G>A
NM_001352605.1:c.2020G>A	NP_001339534.1:p.Ala674Thr
NM_001352606.1:c.1930G>A	NP_001339535.1:p.Ala644Thr
NM_001352607.1:c.1855G>A	NP_001339536.1:p.Ala619Thr
NM_001352608.1:c.1852G>A	NP_001339537.1:p.Ala618Thr
NM_001352610.1:c.1129G>A	NP_001339539.1:p.Ala377Thr
NM_001352611.1:c.1075G>A	NP_001339540.1:p.Ala359Thr
NM_001352612.1:c.985G>A	NP_001339541.1:p.Ala329Thr
NR_148027.1:n.2123G>A
NR_148028.1:n.2161G>A
NR_148029.1:n.2083G>A
NR_148030.1:n.2264G>A
NR_148031.1:n.2077G>A
XM_017020609.1:c.1975G>A	XP_016876098.1:p.Ala659Thr
XM_017020613.1:c.*2G>A	XP_016876102.1:n.*2G>A
XR_001749567.1:n.2254G>A
XR_001749568.1:n.2341G>A
XR_001749569.1:n.2200G>A
XR_001749574.1:n.2110G>A
XR_001749576.1:n.1811G>A
XR_001749577.1:n.1708G>A
NM_000282.4:c.2074G>A MANE Select	NP_000273.2:p.Ala692Thr
NM_001352605.2:c.2020G>A	NP_001339534.1:p.Ala674Thr
NM_001352606.2:c.1930G>A	NP_001339535.1:p.Ala644Thr
NM_001352607.2:c.1855G>A	NP_001339536.1:p.Ala619Thr
NM_001352608.2:c.1852G>A	NP_001339537.1:p.Ala618Thr
NM_001352610.2:c.1129G>A	NP_001339539.1:p.Ala377Thr
NM_001352611.2:c.1075G>A	NP_001339540.1:p.Ala359Thr
NM_001352612.2:c.985G>A	NP_001339541.1:p.Ala329Thr
NR_148027.2:n.2045G>A
NR_148028.2:n.2083G>A
NR_148029.2:n.2005G>A
NR_148030.2:n.2186G>A
NR_148031.2:n.1999G>A
NM_001127692.3:c.1996G>A	NP_001121164.1:p.Ala666Thr
NM_001178004.2:c.1933G>A	NP_001171475.1:p.Ala645Thr