Canonical Allele Identifier: CA201250

Gene: PCCA

Linked Data

• ClinVar Variation Id: 194593
• ClinVar RCV Id: RCV000174996 ; RCV000370381
• dbSNP Id: rs16957276
• ExAC: 13:100962169 A / G
• gnomAD v2: 13-100962169-A-G
• gnomAD v3: 13-100309915-A-G
• gnomAD v4: 13-100309915-A-G
• MyVariant Identifiers: chr13:g.100962169A>G (hg19) ; chr13:g.100309915A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.100309915A>G , CM000675.2:g.100309915A>G	GRCh38
NC_000013.10:g.100962169A>G , CM000675.1:g.100962169A>G	GRCh37
NC_000013.9:g.99760170A>G	NCBI36
NG_008768.1:g.225833A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000376285.6:c.1429+7A>G MANE Select	ENSP00000365462.1:n.1429+7A>G
ENST00000636366.1:c.944+36569A>G
ENST00000636420.1:c.1306+7A>G
ENST00000636475.1:c.945-20646A>G
ENST00000637657.1:c.1089+7A>G
ENST00000647303.1:c.*914-20646A>G	ENSP00000495663.1:n.*914-20646A>G
ENST00000376279.7:c.1429+7A>G	ENSP00000365456.3:n.1429+7A>G
ENST00000376285.5:c.1429+7A>G	ENSP00000365462.1:n.1429+7A>G
ENST00000376286.8:c.1351+7A>G	ENSP00000365463.4:n.1351+7A>G
ENST00000424527.5:c.31+16661A>G	ENSP00000396050.1:n.31+16661A>G
ENST00000443601.1:c.204+7A>G
NM_000282.3:c.1429+7A>G	NP_000273.2:n.1429+7A>G
NM_001127692.2:c.1351+7A>G	NP_001121164.1:n.1351+7A>G
NM_001178004.1:c.1429+7A>G	NP_001171475.1:n.1429+7A>G
XM_005254059.2:c.1429+7A>G	XP_005254116.1:n.1429+7A>G
XM_011521093.1:c.1429+7A>G	XP_011519395.1:n.1429+7A>G
XR_931615.1:n.1530+7A>G
NM_001352605.1:c.1429+7A>G	NP_001339534.1:n.1429+7A>G
NM_001352606.1:c.1285+7A>G	NP_001339535.1:n.1285+7A>G
NM_001352607.1:c.1351+7A>G	NP_001339536.1:n.1351+7A>G
NM_001352608.1:c.1207+7A>G	NP_001339537.1:n.1207+7A>G
NM_001352609.1:c.1429+7A>G	NP_001339538.1:n.1429+7A>G
NM_001352610.1:c.484+7A>G	NP_001339539.1:n.484+7A>G
NM_001352611.1:c.484+7A>G	NP_001339540.1:n.484+7A>G
NM_001352612.1:c.340+7A>G	NP_001339541.1:n.340+7A>G
NR_148027.1:n.1619+7A>G
NR_148028.1:n.1619+7A>G
NR_148029.1:n.1541+7A>G
NR_148030.1:n.1619+7A>G
NR_148031.1:n.1535+7A>G
XM_017020605.1:c.1429+7A>G	XP_016876094.1:n.1429+7A>G
XM_017020606.1:c.1351+7A>G	XP_016876095.1:n.1351+7A>G
XM_017020607.1:c.1330+7A>G	XP_016876096.1:n.1330+7A>G
XM_017020609.1:c.1330+7A>G	XP_016876098.1:n.1330+7A>G
XM_017020611.1:c.1429+7A>G	XP_016876100.1:n.1429+7A>G
XM_017020612.1:c.1429+7A>G	XP_016876101.1:n.1429+7A>G
XM_017020613.1:c.1429+7A>G	XP_016876102.1:n.1429+7A>G
XM_017020615.1:c.1429+7A>G	XP_016876104.1:n.1429+7A>G
XM_017020616.1:c.1429+7A>G	XP_016876105.1:n.1429+7A>G
XR_001749567.1:n.1530+7A>G
XR_001749568.1:n.1530+7A>G
XR_001749569.1:n.1530+7A>G
XR_001749574.1:n.1465+7A>G
XR_001749576.1:n.1167-20646A>G
XR_001749577.1:n.1167-20646A>G
NM_000282.4:c.1429+7A>G MANE Select	NP_000273.2:n.1429+7A>G
NM_001352605.2:c.1429+7A>G	NP_001339534.1:n.1429+7A>G
NM_001352606.2:c.1285+7A>G	NP_001339535.1:n.1285+7A>G
NM_001352607.2:c.1351+7A>G	NP_001339536.1:n.1351+7A>G
NM_001352608.2:c.1207+7A>G	NP_001339537.1:n.1207+7A>G
NM_001352609.2:c.1429+7A>G	NP_001339538.1:n.1429+7A>G
NM_001352610.2:c.484+7A>G	NP_001339539.1:n.484+7A>G
NM_001352611.2:c.484+7A>G	NP_001339540.1:n.484+7A>G
NM_001352612.2:c.340+7A>G	NP_001339541.1:n.340+7A>G
NR_148027.2:n.1541+7A>G
NR_148028.2:n.1541+7A>G
NR_148029.2:n.1463+7A>G
NR_148030.2:n.1541+7A>G
NR_148031.2:n.1457+7A>G
NM_001127692.3:c.1351+7A>G	NP_001121164.1:n.1351+7A>G
NM_001178004.2:c.1429+7A>G	NP_001171475.1:n.1429+7A>G