Canonical Allele Identifier: CA388641134

Gene: PCCA

Linked Data

• MyVariant Identifiers: chr13:g.101182409G>A (hg19) ; chr13:g.100530155G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.100530155G>A , CM000675.2:g.100530155G>A	GRCh38
NC_000013.10:g.101182409G>A , CM000675.1:g.101182409G>A	GRCh37
NC_000013.9:g.99980410G>A	NCBI36
NG_008768.1:g.446073G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376285.6:c.2176G>A MANE Select	ENSP00000365462.1:p.Glu726Lys
ENST00000636366.1:c.1374G>A
ENST00000636475.1:c.1691G>A
ENST00000637657.1:c.1836G>A
ENST00000647303.1:c.*1660G>A	ENSP00000495663.1:n.*1660G>A
ENST00000376279.7:c.2035G>A	ENSP00000365456.3:p.Glu679Lys
ENST00000376285.5:c.2176G>A	ENSP00000365462.1:p.Glu726Lys
ENST00000376286.8:c.2098G>A	ENSP00000365463.4:p.Glu700Lys
ENST00000428969.1:c.325G>A	ENSP00000399413.1:p.Glu109Lys
ENST00000458283.5:c.392G>A
NM_000282.3:c.2176G>A	NP_000273.2:p.Glu726Lys
NM_001127692.2:c.2098G>A	NP_001121164.1:p.Glu700Lys
NM_001178004.1:c.2035G>A	NP_001171475.1:p.Glu679Lys
XR_931615.1:n.2033G>A
NM_001352605.1:c.2122G>A	NP_001339534.1:p.Glu708Lys
NM_001352606.1:c.2032G>A	NP_001339535.1:p.Glu678Lys
NM_001352607.1:c.1957G>A	NP_001339536.1:p.Glu653Lys
NM_001352608.1:c.1954G>A	NP_001339537.1:p.Glu652Lys
NM_001352610.1:c.1231G>A	NP_001339539.1:p.Glu411Lys
NM_001352611.1:c.1177G>A	NP_001339540.1:p.Glu393Lys
NM_001352612.1:c.1087G>A	NP_001339541.1:p.Glu363Lys
NR_148027.1:n.2225G>A
NR_148028.1:n.2263G>A
NR_148029.1:n.2185G>A
NR_148030.1:n.2366G>A
NR_148031.1:n.2179G>A
XM_017020609.1:c.2077G>A	XP_016876098.1:p.Glu693Lys
XM_017020613.1:c.*104G>A	XP_016876102.1:n.*104G>A
XR_001749567.1:n.2356G>A
XR_001749568.1:n.2443G>A
XR_001749569.1:n.2302G>A
XR_001749576.1:n.1913G>A
XR_001749577.1:n.1810G>A
NM_000282.4:c.2176G>A MANE Select	NP_000273.2:p.Glu726Lys
NM_001352605.2:c.2122G>A	NP_001339534.1:p.Glu708Lys
NM_001352606.2:c.2032G>A	NP_001339535.1:p.Glu678Lys
NM_001352607.2:c.1957G>A	NP_001339536.1:p.Glu653Lys
NM_001352608.2:c.1954G>A	NP_001339537.1:p.Glu652Lys
NM_001352610.2:c.1231G>A	NP_001339539.1:p.Glu411Lys
NM_001352611.2:c.1177G>A	NP_001339540.1:p.Glu393Lys
NM_001352612.2:c.1087G>A	NP_001339541.1:p.Glu363Lys
NR_148027.2:n.2147G>A
NR_148028.2:n.2185G>A
NR_148029.2:n.2107G>A
NR_148030.2:n.2288G>A
NR_148031.2:n.2101G>A
NM_001127692.3:c.2098G>A	NP_001121164.1:p.Glu700Lys
NM_001178004.2:c.2035G>A	NP_001171475.1:p.Glu679Lys