Canonical Allele Identifier: CA484744089

Gene: PCCA

Linked Data

• ClinVar Variation Id: 1154826
• ClinVar RCV Id: RCV001496953
• dbSNP Id: rs911990330
• gnomAD v4: 13-100268716-T-C
• MyVariant Identifiers: chr13:g.100920970T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.100268716T>C , CM000675.2:g.100268716T>C	GRCh38
NC_000013.10:g.100920970T>C , CM000675.1:g.100920970T>C	GRCh37
NC_000013.9:g.99718971T>C	NCBI36
NG_008768.1:g.184634T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376285.6:c.847T>C MANE Select	ENSP00000365462.1:p.Leu283=
ENST00000636366.1:c.726T>C
ENST00000636420.1:c.726T>C
ENST00000636475.1:c.726T>C
ENST00000637657.1:c.726T>C
ENST00000647303.1:c.*695T>C	ENSP00000495663.1:n.*695T>C
ENST00000376279.7:c.847T>C	ENSP00000365456.3:p.Leu283=
ENST00000376285.5:c.847T>C	ENSP00000365462.1:p.Leu283=
ENST00000376286.8:c.769T>C	ENSP00000365463.4:p.Leu257=
NM_000282.3:c.847T>C	NP_000273.2:p.Leu283=
NM_001127692.2:c.769T>C	NP_001121164.1:p.Leu257=
NM_001178004.1:c.847T>C	NP_001171475.1:p.Leu283=
XM_005254059.2:c.847T>C	XP_005254116.1:p.Leu283=
XM_011521093.1:c.847T>C	XP_011519395.1:p.Leu283=
XR_931615.1:n.948T>C
XR_931616.1:n.948T>C
NM_001352605.1:c.847T>C	NP_001339534.1:p.Leu283=
NM_001352606.1:c.847T>C	NP_001339535.1:p.Leu283=
NM_001352607.1:c.769T>C	NP_001339536.1:p.Leu257=
NM_001352608.1:c.769T>C	NP_001339537.1:p.Leu257=
NM_001352609.1:c.847T>C	NP_001339538.1:p.Leu283=
NM_001352610.1:c.-99T>C	NP_001339539.1:n.-99T>C
NM_001352611.1:c.-99T>C	NP_001339540.1:n.-99T>C
NM_001352612.1:c.-99T>C	NP_001339541.1:n.-99T>C
NR_148027.1:n.953T>C
NR_148028.1:n.953T>C
NR_148029.1:n.875T>C
NR_148030.1:n.953T>C
NR_148031.1:n.953T>C
XM_017020605.1:c.847T>C	XP_016876094.1:p.Leu283=
XM_017020606.1:c.769T>C	XP_016876095.1:p.Leu257=
XM_017020607.1:c.748T>C	XP_016876096.1:p.Leu250=
XM_017020609.1:c.748T>C	XP_016876098.1:p.Leu250=
XM_017020611.1:c.847T>C	XP_016876100.1:p.Leu283=
XM_017020612.1:c.847T>C	XP_016876101.1:p.Leu283=
XM_017020613.1:c.847T>C	XP_016876102.1:p.Leu283=
XM_017020615.1:c.847T>C	XP_016876104.1:p.Leu283=
XM_017020616.1:c.847T>C	XP_016876105.1:p.Leu283=
XR_001749567.1:n.948T>C
XR_001749568.1:n.948T>C
XR_001749569.1:n.948T>C
XR_001749574.1:n.799T>C
XR_001749576.1:n.948T>C
XR_001749577.1:n.948T>C
NM_000282.4:c.847T>C MANE Select	NP_000273.2:p.Leu283=
NM_001352605.2:c.847T>C	NP_001339534.1:p.Leu283=
NM_001352606.2:c.847T>C	NP_001339535.1:p.Leu283=
NM_001352607.2:c.769T>C	NP_001339536.1:p.Leu257=
NM_001352608.2:c.769T>C	NP_001339537.1:p.Leu257=
NM_001352609.2:c.847T>C	NP_001339538.1:p.Leu283=
NM_001352610.2:c.-99T>C	NP_001339539.1:n.-99T>C
NM_001352611.2:c.-99T>C	NP_001339540.1:n.-99T>C
NM_001352612.2:c.-99T>C	NP_001339541.1:n.-99T>C
NR_148027.2:n.875T>C
NR_148028.2:n.875T>C
NR_148029.2:n.797T>C
NR_148030.2:n.875T>C
NR_148031.2:n.875T>C
NM_001127692.3:c.769T>C	NP_001121164.1:p.Leu257=
NM_001178004.2:c.847T>C	NP_001171475.1:p.Leu283=