Canonical Allele Identifier: CA388640394

Gene: PCCA

Linked Data

• dbSNP Id: rs2086771743
• MyVariant Identifiers: chr13:g.101167796C>T (hg19) ; chr13:g.100515542C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.100515542C>T , CM000675.2:g.100515542C>T	GRCh38
NC_000013.10:g.101167796C>T , CM000675.1:g.101167796C>T	GRCh37
NC_000013.9:g.99965797C>T	NCBI36
NG_008768.1:g.431460C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000376285.6:c.2015C>T MANE Select	ENSP00000365462.1:p.Ala672Val
ENST00000636366.1:c.1213C>T
ENST00000636475.1:c.1530C>T
ENST00000637657.1:c.1675C>T
ENST00000647303.1:c.*1499C>T	ENSP00000495663.1:n.*1499C>T
ENST00000376279.7:c.1900-12133C>T	ENSP00000365456.3:n.1900-12133C>T
ENST00000376285.5:c.2015C>T	ENSP00000365462.1:p.Ala672Val
ENST00000376286.8:c.1937C>T	ENSP00000365463.4:p.Ala646Val
ENST00000428969.1:c.116C>T	ENSP00000399413.1:p.Ala39Val
ENST00000458283.5:c.257-12133C>T
NM_000282.3:c.2015C>T	NP_000273.2:p.Ala672Val
NM_001127692.2:c.1937C>T	NP_001121164.1:p.Ala646Val
NM_001178004.1:c.1900-12133C>T	NP_001171475.1:n.1900-12133C>T
XR_931615.1:n.1898-12133C>T
NM_001352605.1:c.1961C>T	NP_001339534.1:p.Ala654Val
NM_001352606.1:c.1871C>T	NP_001339535.1:p.Ala624Val
NM_001352607.1:c.1822-12133C>T	NP_001339536.1:n.1822-12133C>T
NM_001352608.1:c.1793C>T	NP_001339537.1:p.Ala598Val
NM_001352610.1:c.1070C>T	NP_001339539.1:p.Ala357Val
NM_001352611.1:c.1016C>T	NP_001339540.1:p.Ala339Val
NM_001352612.1:c.926C>T	NP_001339541.1:p.Ala309Val
NR_148027.1:n.2090-12133C>T
NR_148028.1:n.2102C>T
NR_148029.1:n.2024C>T
NR_148030.1:n.2205C>T
NR_148031.1:n.2018C>T
XM_017020609.1:c.1916C>T	XP_016876098.1:p.Ala639Val
XM_017020612.1:c.*48C>T	XP_016876101.1:n.*48C>T
XM_017020613.1:c.1979-12133C>T	XP_016876102.1:n.1979-12133C>T
XR_001749567.1:n.2195C>T
XR_001749568.1:n.2282C>T
XR_001749569.1:n.2167-12133C>T
XR_001749574.1:n.2051C>T
XR_001749576.1:n.1752C>T
XR_001749577.1:n.1649C>T
NM_000282.4:c.2015C>T MANE Select	NP_000273.2:p.Ala672Val
NM_001352605.2:c.1961C>T	NP_001339534.1:p.Ala654Val
NM_001352606.2:c.1871C>T	NP_001339535.1:p.Ala624Val
NM_001352607.2:c.1822-12133C>T	NP_001339536.1:n.1822-12133C>T
NM_001352608.2:c.1793C>T	NP_001339537.1:p.Ala598Val
NM_001352610.2:c.1070C>T	NP_001339539.1:p.Ala357Val
NM_001352611.2:c.1016C>T	NP_001339540.1:p.Ala339Val
NM_001352612.2:c.926C>T	NP_001339541.1:p.Ala309Val
NR_148027.2:n.2012-12133C>T
NR_148028.2:n.2024C>T
NR_148029.2:n.1946C>T
NR_148030.2:n.2127C>T
NR_148031.2:n.1940C>T
NM_001127692.3:c.1937C>T	NP_001121164.1:p.Ala646Val
NM_001178004.2:c.1900-12133C>T	NP_001171475.1:n.1900-12133C>T