Canonical Allele Identifier: CA388695746

Gene: PCCA

Linked Data

• gnomAD v4: 13-100309833-C-A
• MyVariant Identifiers: chr13:g.100962087C>A (hg19) ; chr13:g.100309833C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.100309833C>A , CM000675.2:g.100309833C>A	GRCh38
NC_000013.10:g.100962087C>A , CM000675.1:g.100962087C>A	GRCh37
NC_000013.9:g.99760088C>A	NCBI36
NG_008768.1:g.225751C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000376285.6:c.1354C>A MANE Select	ENSP00000365462.1:p.Leu452Ile
ENST00000636366.1:c.944+36487C>A
ENST00000636420.1:c.1231C>A
ENST00000636475.1:c.945-20728C>A
ENST00000637657.1:c.1014C>A
ENST00000647303.1:c.*914-20728C>A	ENSP00000495663.1:n.*914-20728C>A
ENST00000376279.7:c.1354C>A	ENSP00000365456.3:p.Leu452Ile
ENST00000376285.5:c.1354C>A	ENSP00000365462.1:p.Leu452Ile
ENST00000376286.8:c.1276C>A	ENSP00000365463.4:p.Leu426Ile
ENST00000424527.5:c.31+16579C>A	ENSP00000396050.1:n.31+16579C>A
ENST00000443601.1:c.129C>A
NM_000282.3:c.1354C>A	NP_000273.2:p.Leu452Ile
NM_001127692.2:c.1276C>A	NP_001121164.1:p.Leu426Ile
NM_001178004.1:c.1354C>A	NP_001171475.1:p.Leu452Ile
XM_005254059.2:c.1354C>A	XP_005254116.1:p.Leu452Ile
XM_011521093.1:c.1354C>A	XP_011519395.1:p.Leu452Ile
XR_931615.1:n.1455C>A
NM_001352605.1:c.1354C>A	NP_001339534.1:p.Leu452Ile
NM_001352606.1:c.1210C>A	NP_001339535.1:p.Leu404Ile
NM_001352607.1:c.1276C>A	NP_001339536.1:p.Leu426Ile
NM_001352608.1:c.1132C>A	NP_001339537.1:p.Leu378Ile
NM_001352609.1:c.1354C>A	NP_001339538.1:p.Leu452Ile
NM_001352610.1:c.409C>A	NP_001339539.1:p.Leu137Ile
NM_001352611.1:c.409C>A	NP_001339540.1:p.Leu137Ile
NM_001352612.1:c.265C>A	NP_001339541.1:p.Leu89Ile
NR_148027.1:n.1544C>A
NR_148028.1:n.1544C>A
NR_148029.1:n.1466C>A
NR_148030.1:n.1544C>A
NR_148031.1:n.1460C>A
XM_017020605.1:c.1354C>A	XP_016876094.1:p.Leu452Ile
XM_017020606.1:c.1276C>A	XP_016876095.1:p.Leu426Ile
XM_017020607.1:c.1255C>A	XP_016876096.1:p.Leu419Ile
XM_017020609.1:c.1255C>A	XP_016876098.1:p.Leu419Ile
XM_017020611.1:c.1354C>A	XP_016876100.1:p.Leu452Ile
XM_017020612.1:c.1354C>A	XP_016876101.1:p.Leu452Ile
XM_017020613.1:c.1354C>A	XP_016876102.1:p.Leu452Ile
XM_017020615.1:c.1354C>A	XP_016876104.1:p.Leu452Ile
XM_017020616.1:c.1354C>A	XP_016876105.1:p.Leu452Ile
XR_001749567.1:n.1455C>A
XR_001749568.1:n.1455C>A
XR_001749569.1:n.1455C>A
XR_001749574.1:n.1390C>A
XR_001749576.1:n.1167-20728C>A
XR_001749577.1:n.1167-20728C>A
NM_000282.4:c.1354C>A MANE Select	NP_000273.2:p.Leu452Ile
NM_001352605.2:c.1354C>A	NP_001339534.1:p.Leu452Ile
NM_001352606.2:c.1210C>A	NP_001339535.1:p.Leu404Ile
NM_001352607.2:c.1276C>A	NP_001339536.1:p.Leu426Ile
NM_001352608.2:c.1132C>A	NP_001339537.1:p.Leu378Ile
NM_001352609.2:c.1354C>A	NP_001339538.1:p.Leu452Ile
NM_001352610.2:c.409C>A	NP_001339539.1:p.Leu137Ile
NM_001352611.2:c.409C>A	NP_001339540.1:p.Leu137Ile
NM_001352612.2:c.265C>A	NP_001339541.1:p.Leu89Ile
NR_148027.2:n.1466C>A
NR_148028.2:n.1466C>A
NR_148029.2:n.1388C>A
NR_148030.2:n.1466C>A
NR_148031.2:n.1382C>A
NM_001127692.3:c.1276C>A	NP_001121164.1:p.Leu426Ile
NM_001178004.2:c.1354C>A	NP_001171475.1:p.Leu452Ile