Canonical Allele Identifier: CA7033231
Gene: PCCA HGNC NCBI

Linked Data

ClinVar Variation Id: 218260
ClinVar RCV Id: RCV000235728
dbSNP Id: rs760387660

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.100157339T>A , CM000675.2:g.100157339T>A GRCh38
NC_000013.10:g.100809593T>A , CM000675.1:g.100809593T>A GRCh37
NC_000013.9:g.99607594T>A NCBI36
NG_008768.1:g.73257T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000376285.6:c.467T>A MANE Select ENSP00000365462.1:p.Leu156Ter
ENST00000636366.1:c.346T>A
ENST00000636420.1:c.346T>A
ENST00000636475.1:c.346T>A
ENST00000637358.1:c.346T>A
ENST00000637657.1:c.346T>A
ENST00000647303.1:c.*315T>A ENSP00000495663.1:n.*315T>A
ENST00000376279.7:c.467T>A ENSP00000365456.3:p.Leu156Ter
ENST00000376285.5:c.467T>A ENSP00000365462.1:p.Leu156Ter
ENST00000376286.8:c.389T>A ENSP00000365463.4:p.Leu130Ter
ENST00000485946.1:n.835T>A
NM_000282.3:c.467T>A NP_000273.2:p.Leu156Ter
NM_001127692.2:c.389T>A NP_001121164.1:p.Leu130Ter
NM_001178004.1:c.467T>A NP_001171475.1:p.Leu156Ter
XM_005254059.2:c.467T>A XP_005254116.1:p.Leu156Ter
XM_011521093.1:c.467T>A XP_011519395.1:p.Leu156Ter
XR_931615.1:n.568T>A
XR_931616.1:n.568T>A
NM_001352605.1:c.467T>A NP_001339534.1:p.Leu156Ter
NM_001352606.1:c.467T>A NP_001339535.1:p.Leu156Ter
NM_001352607.1:c.389T>A NP_001339536.1:p.Leu130Ter
NM_001352608.1:c.389T>A NP_001339537.1:p.Leu130Ter
NM_001352609.1:c.467T>A NP_001339538.1:p.Leu156Ter
NM_001352610.1:c.-400T>A NP_001339539.1:n.-400T>A
NM_001352611.1:c.-400T>A NP_001339540.1:n.-400T>A
NM_001352612.1:c.-400T>A NP_001339541.1:n.-400T>A
NR_148027.1:n.573T>A
NR_148028.1:n.573T>A
NR_148029.1:n.495T>A
NR_148030.1:n.573T>A
NR_148031.1:n.573T>A
XM_017020605.1:c.467T>A XP_016876094.1:p.Leu156Ter
XM_017020606.1:c.389T>A XP_016876095.1:p.Leu130Ter
XM_017020607.1:c.368T>A XP_016876096.1:p.Leu123Ter
XM_017020609.1:c.368T>A XP_016876098.1:p.Leu123Ter
XM_017020611.1:c.467T>A XP_016876100.1:p.Leu156Ter
XM_017020612.1:c.467T>A XP_016876101.1:p.Leu156Ter
XM_017020613.1:c.467T>A XP_016876102.1:p.Leu156Ter
XM_017020615.1:c.467T>A XP_016876104.1:p.Leu156Ter
XM_017020616.1:c.467T>A XP_016876105.1:p.Leu156Ter
XR_001749567.1:n.568T>A
XR_001749568.1:n.568T>A
XR_001749569.1:n.568T>A
XR_001749574.1:n.419T>A
XR_001749576.1:n.568T>A
XR_001749577.1:n.568T>A
NM_000282.4:c.467T>A MANE Select NP_000273.2:p.Leu156Ter
NM_001352605.2:c.467T>A NP_001339534.1:p.Leu156Ter
NM_001352606.2:c.467T>A NP_001339535.1:p.Leu156Ter
NM_001352607.2:c.389T>A NP_001339536.1:p.Leu130Ter
NM_001352608.2:c.389T>A NP_001339537.1:p.Leu130Ter
NM_001352609.2:c.467T>A NP_001339538.1:p.Leu156Ter
NM_001352610.2:c.-400T>A NP_001339539.1:n.-400T>A
NM_001352611.2:c.-400T>A NP_001339540.1:n.-400T>A
NM_001352612.2:c.-400T>A NP_001339541.1:n.-400T>A
NR_148027.2:n.495T>A
NR_148028.2:n.495T>A
NR_148029.2:n.417T>A
NR_148030.2:n.495T>A
NR_148031.2:n.495T>A
NM_001127692.3:c.389T>A NP_001121164.1:p.Leu130Ter
NM_001178004.2:c.467T>A NP_001171475.1:p.Leu156Ter