Canonical Allele Identifier: CA388695374

Gene: PCCA

Linked Data

• ClinVar Variation Id: 1490406
• ClinVar RCV Id: RCV001983721
• dbSNP Id: rs1301904623
• MyVariant Identifiers: chr13:g.100953844G>T (hg19) ; chr13:g.100301590G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.100301590G>T , CM000675.2:g.100301590G>T	GRCh38
NC_000013.10:g.100953844G>T , CM000675.1:g.100953844G>T	GRCh37
NC_000013.9:g.99751845G>T	NCBI36
NG_008768.1:g.217508G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376285.6:c.1196G>T MANE Select	ENSP00000365462.1:p.Arg399Leu
ENST00000636366.1:c.944+28244G>T
ENST00000636420.1:c.1075G>T
ENST00000636475.1:c.944+28244G>T
ENST00000637657.1:c.945-5602G>T
ENST00000647303.1:c.*913+28244G>T	ENSP00000495663.1:n.*913+28244G>T
ENST00000376279.7:c.1196G>T	ENSP00000365456.3:p.Arg399Leu
ENST00000376285.5:c.1196G>T	ENSP00000365462.1:p.Arg399Leu
ENST00000376286.8:c.1118G>T	ENSP00000365463.4:p.Arg373Leu
ENST00000424527.5:c.31+8336G>T	ENSP00000396050.1:n.31+8336G>T
NM_000282.3:c.1196G>T	NP_000273.2:p.Arg399Leu
NM_001127692.2:c.1118G>T	NP_001121164.1:p.Arg373Leu
NM_001178004.1:c.1196G>T	NP_001171475.1:p.Arg399Leu
XM_005254059.2:c.1196G>T	XP_005254116.1:p.Arg399Leu
XM_011521093.1:c.1196G>T	XP_011519395.1:p.Arg399Leu
XR_931615.1:n.1297G>T
XR_931616.1:n.1297G>T
NM_001352605.1:c.1196G>T	NP_001339534.1:p.Arg399Leu
NM_001352606.1:c.1066-1334G>T	NP_001339535.1:n.1066-1334G>T
NM_001352607.1:c.1118G>T	NP_001339536.1:p.Arg373Leu
NM_001352608.1:c.988-1334G>T	NP_001339537.1:n.988-1334G>T
NM_001352609.1:c.1196G>T	NP_001339538.1:p.Arg399Leu
NM_001352610.1:c.251G>T	NP_001339539.1:p.Arg84Leu
NM_001352611.1:c.251G>T	NP_001339540.1:p.Arg84Leu
NM_001352612.1:c.121-1334G>T	NP_001339541.1:n.121-1334G>T
NR_148027.1:n.1302G>T
NR_148028.1:n.1302G>T
NR_148029.1:n.1224G>T
NR_148030.1:n.1302G>T
NR_148031.1:n.1302G>T
XM_017020605.1:c.1196G>T	XP_016876094.1:p.Arg399Leu
XM_017020606.1:c.1118G>T	XP_016876095.1:p.Arg373Leu
XM_017020607.1:c.1097G>T	XP_016876096.1:p.Arg366Leu
XM_017020609.1:c.1097G>T	XP_016876098.1:p.Arg366Leu
XM_017020611.1:c.1196G>T	XP_016876100.1:p.Arg399Leu
XM_017020612.1:c.1196G>T	XP_016876101.1:p.Arg399Leu
XM_017020613.1:c.1196G>T	XP_016876102.1:p.Arg399Leu
XM_017020615.1:c.1196G>T	XP_016876104.1:p.Arg399Leu
XM_017020616.1:c.1196G>T	XP_016876105.1:p.Arg399Leu
XR_001749567.1:n.1297G>T
XR_001749568.1:n.1297G>T
XR_001749569.1:n.1297G>T
XR_001749574.1:n.1148G>T
XR_001749576.1:n.1166+28244G>T
XR_001749577.1:n.1166+28244G>T
NM_000282.4:c.1196G>T MANE Select	NP_000273.2:p.Arg399Leu
NM_001352605.2:c.1196G>T	NP_001339534.1:p.Arg399Leu
NM_001352606.2:c.1066-1334G>T	NP_001339535.1:n.1066-1334G>T
NM_001352607.2:c.1118G>T	NP_001339536.1:p.Arg373Leu
NM_001352608.2:c.988-1334G>T	NP_001339537.1:n.988-1334G>T
NM_001352609.2:c.1196G>T	NP_001339538.1:p.Arg399Leu
NM_001352610.2:c.251G>T	NP_001339539.1:p.Arg84Leu
NM_001352611.2:c.251G>T	NP_001339540.1:p.Arg84Leu
NM_001352612.2:c.121-1334G>T	NP_001339541.1:n.121-1334G>T
NR_148027.2:n.1224G>T
NR_148028.2:n.1224G>T
NR_148029.2:n.1146G>T
NR_148030.2:n.1224G>T
NR_148031.2:n.1224G>T
NM_001127692.3:c.1118G>T	NP_001121164.1:p.Arg373Leu
NM_001178004.2:c.1196G>T	NP_001171475.1:p.Arg399Leu