Canonical Allele Identifier: CA388640625

Gene: PCCA

Linked Data

• MyVariant Identifiers: chr13:g.101179952T>G (hg19) ; chr13:g.100527698T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.100527698T>G , CM000675.2:g.100527698T>G	GRCh38
NC_000013.10:g.101179952T>G , CM000675.1:g.101179952T>G	GRCh37
NC_000013.9:g.99977953T>G	NCBI36
NG_008768.1:g.443616T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000376285.6:c.2064T>G MANE Select	ENSP00000365462.1:p.Cys688Trp
ENST00000636366.1:c.1262T>G
ENST00000636475.1:c.1579T>G
ENST00000637657.1:c.1724T>G
ENST00000647303.1:c.*1548T>G	ENSP00000495663.1:n.*1548T>G
ENST00000376279.7:c.1923T>G	ENSP00000365456.3:p.Cys641Trp
ENST00000376285.5:c.2064T>G	ENSP00000365462.1:p.Cys688Trp
ENST00000376286.8:c.1986T>G	ENSP00000365463.4:p.Cys662Trp
ENST00000428969.1:c.213T>G	ENSP00000399413.1:p.Cys71Trp
ENST00000458283.5:c.280T>G
NM_000282.3:c.2064T>G	NP_000273.2:p.Cys688Trp
NM_001127692.2:c.1986T>G	NP_001121164.1:p.Cys662Trp
NM_001178004.1:c.1923T>G	NP_001171475.1:p.Cys641Trp
XR_931615.1:n.1921T>G
NM_001352605.1:c.2010T>G	NP_001339534.1:p.Cys670Trp
NM_001352606.1:c.1920T>G	NP_001339535.1:p.Cys640Trp
NM_001352607.1:c.1845T>G	NP_001339536.1:p.Cys615Trp
NM_001352608.1:c.1842T>G	NP_001339537.1:p.Cys614Trp
NM_001352610.1:c.1119T>G	NP_001339539.1:p.Cys373Trp
NM_001352611.1:c.1065T>G	NP_001339540.1:p.Cys355Trp
NM_001352612.1:c.975T>G	NP_001339541.1:p.Cys325Trp
NR_148027.1:n.2113T>G
NR_148028.1:n.2151T>G
NR_148029.1:n.2073T>G
NR_148030.1:n.2254T>G
NR_148031.1:n.2067T>G
XM_017020609.1:c.1965T>G	XP_016876098.1:p.Cys655Trp
XM_017020613.1:c.2002T>G	XP_016876102.1:p.Cys668Gly
XR_001749567.1:n.2244T>G
XR_001749568.1:n.2331T>G
XR_001749569.1:n.2190T>G
XR_001749574.1:n.2100T>G
XR_001749576.1:n.1801T>G
XR_001749577.1:n.1698T>G
NM_000282.4:c.2064T>G MANE Select	NP_000273.2:p.Cys688Trp
NM_001352605.2:c.2010T>G	NP_001339534.1:p.Cys670Trp
NM_001352606.2:c.1920T>G	NP_001339535.1:p.Cys640Trp
NM_001352607.2:c.1845T>G	NP_001339536.1:p.Cys615Trp
NM_001352608.2:c.1842T>G	NP_001339537.1:p.Cys614Trp
NM_001352610.2:c.1119T>G	NP_001339539.1:p.Cys373Trp
NM_001352611.2:c.1065T>G	NP_001339540.1:p.Cys355Trp
NM_001352612.2:c.975T>G	NP_001339541.1:p.Cys325Trp
NR_148027.2:n.2035T>G
NR_148028.2:n.2073T>G
NR_148029.2:n.1995T>G
NR_148030.2:n.2176T>G
NR_148031.2:n.1989T>G
NM_001127692.3:c.1986T>G	NP_001121164.1:p.Cys662Trp
NM_001178004.2:c.1923T>G	NP_001171475.1:p.Cys641Trp