Canonical Allele Identifier: CA388640650

Gene: PCCA

Linked Data

• MyVariant Identifiers: chr13:g.101179963C>T (hg19) ; chr13:g.100527709C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.100527709C>T , CM000675.2:g.100527709C>T	GRCh38
NC_000013.10:g.101179963C>T , CM000675.1:g.101179963C>T	GRCh37
NC_000013.9:g.99977964C>T	NCBI36
NG_008768.1:g.443627C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000376285.6:c.2075C>T MANE Select	ENSP00000365462.1:p.Ala692Val
ENST00000636366.1:c.1273C>T
ENST00000636475.1:c.1590C>T
ENST00000637657.1:c.1735C>T
ENST00000647303.1:c.*1559C>T	ENSP00000495663.1:n.*1559C>T
ENST00000376279.7:c.1934C>T	ENSP00000365456.3:p.Ala645Val
ENST00000376285.5:c.2075C>T	ENSP00000365462.1:p.Ala692Val
ENST00000376286.8:c.1997C>T	ENSP00000365463.4:p.Ala666Val
ENST00000428969.1:c.224C>T	ENSP00000399413.1:p.Ala75Val
ENST00000458283.5:c.291C>T
NM_000282.3:c.2075C>T	NP_000273.2:p.Ala692Val
NM_001127692.2:c.1997C>T	NP_001121164.1:p.Ala666Val
NM_001178004.1:c.1934C>T	NP_001171475.1:p.Ala645Val
XR_931615.1:n.1932C>T
NM_001352605.1:c.2021C>T	NP_001339534.1:p.Ala674Val
NM_001352606.1:c.1931C>T	NP_001339535.1:p.Ala644Val
NM_001352607.1:c.1856C>T	NP_001339536.1:p.Ala619Val
NM_001352608.1:c.1853C>T	NP_001339537.1:p.Ala618Val
NM_001352610.1:c.1130C>T	NP_001339539.1:p.Ala377Val
NM_001352611.1:c.1076C>T	NP_001339540.1:p.Ala359Val
NM_001352612.1:c.986C>T	NP_001339541.1:p.Ala329Val
NR_148027.1:n.2124C>T
NR_148028.1:n.2162C>T
NR_148029.1:n.2084C>T
NR_148030.1:n.2265C>T
NR_148031.1:n.2078C>T
XM_017020609.1:c.1976C>T	XP_016876098.1:p.Ala659Val
XM_017020613.1:c.*3C>T	XP_016876102.1:n.*3C>T
XR_001749567.1:n.2255C>T
XR_001749568.1:n.2342C>T
XR_001749569.1:n.2201C>T
XR_001749574.1:n.2111C>T
XR_001749576.1:n.1812C>T
XR_001749577.1:n.1709C>T
NM_000282.4:c.2075C>T MANE Select	NP_000273.2:p.Ala692Val
NM_001352605.2:c.2021C>T	NP_001339534.1:p.Ala674Val
NM_001352606.2:c.1931C>T	NP_001339535.1:p.Ala644Val
NM_001352607.2:c.1856C>T	NP_001339536.1:p.Ala619Val
NM_001352608.2:c.1853C>T	NP_001339537.1:p.Ala618Val
NM_001352610.2:c.1130C>T	NP_001339539.1:p.Ala377Val
NM_001352611.2:c.1076C>T	NP_001339540.1:p.Ala359Val
NM_001352612.2:c.986C>T	NP_001339541.1:p.Ala329Val
NR_148027.2:n.2046C>T
NR_148028.2:n.2084C>T
NR_148029.2:n.2006C>T
NR_148030.2:n.2187C>T
NR_148031.2:n.2000C>T
NM_001127692.3:c.1997C>T	NP_001121164.1:p.Ala666Val
NM_001178004.2:c.1934C>T	NP_001171475.1:p.Ala645Val