Canonical Allele Identifier: CA388695755

Gene: PCCA

Linked Data

• gnomAD v4: 13-100309837-T-C
• MyVariant Identifiers: chr13:g.100962091T>C (hg19) ; chr13:g.100309837T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.100309837T>C , CM000675.2:g.100309837T>C	GRCh38
NC_000013.10:g.100962091T>C , CM000675.1:g.100962091T>C	GRCh37
NC_000013.9:g.99760092T>C	NCBI36
NG_008768.1:g.225755T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000376285.6:c.1358T>C MANE Select	ENSP00000365462.1:p.Ile453Thr
ENST00000636366.1:c.944+36491T>C
ENST00000636420.1:c.1235T>C
ENST00000636475.1:c.945-20724T>C
ENST00000637657.1:c.1018T>C
ENST00000647303.1:c.*914-20724T>C	ENSP00000495663.1:n.*914-20724T>C
ENST00000376279.7:c.1358T>C	ENSP00000365456.3:p.Ile453Thr
ENST00000376285.5:c.1358T>C	ENSP00000365462.1:p.Ile453Thr
ENST00000376286.8:c.1280T>C	ENSP00000365463.4:p.Ile427Thr
ENST00000424527.5:c.31+16583T>C	ENSP00000396050.1:n.31+16583T>C
ENST00000443601.1:c.133T>C
NM_000282.3:c.1358T>C	NP_000273.2:p.Ile453Thr
NM_001127692.2:c.1280T>C	NP_001121164.1:p.Ile427Thr
NM_001178004.1:c.1358T>C	NP_001171475.1:p.Ile453Thr
XM_005254059.2:c.1358T>C	XP_005254116.1:p.Ile453Thr
XM_011521093.1:c.1358T>C	XP_011519395.1:p.Ile453Thr
XR_931615.1:n.1459T>C
NM_001352605.1:c.1358T>C	NP_001339534.1:p.Ile453Thr
NM_001352606.1:c.1214T>C	NP_001339535.1:p.Ile405Thr
NM_001352607.1:c.1280T>C	NP_001339536.1:p.Ile427Thr
NM_001352608.1:c.1136T>C	NP_001339537.1:p.Ile379Thr
NM_001352609.1:c.1358T>C	NP_001339538.1:p.Ile453Thr
NM_001352610.1:c.413T>C	NP_001339539.1:p.Ile138Thr
NM_001352611.1:c.413T>C	NP_001339540.1:p.Ile138Thr
NM_001352612.1:c.269T>C	NP_001339541.1:p.Ile90Thr
NR_148027.1:n.1548T>C
NR_148028.1:n.1548T>C
NR_148029.1:n.1470T>C
NR_148030.1:n.1548T>C
NR_148031.1:n.1464T>C
XM_017020605.1:c.1358T>C	XP_016876094.1:p.Ile453Thr
XM_017020606.1:c.1280T>C	XP_016876095.1:p.Ile427Thr
XM_017020607.1:c.1259T>C	XP_016876096.1:p.Ile420Thr
XM_017020609.1:c.1259T>C	XP_016876098.1:p.Ile420Thr
XM_017020611.1:c.1358T>C	XP_016876100.1:p.Ile453Thr
XM_017020612.1:c.1358T>C	XP_016876101.1:p.Ile453Thr
XM_017020613.1:c.1358T>C	XP_016876102.1:p.Ile453Thr
XM_017020615.1:c.1358T>C	XP_016876104.1:p.Ile453Thr
XM_017020616.1:c.1358T>C	XP_016876105.1:p.Ile453Thr
XR_001749567.1:n.1459T>C
XR_001749568.1:n.1459T>C
XR_001749569.1:n.1459T>C
XR_001749574.1:n.1394T>C
XR_001749576.1:n.1167-20724T>C
XR_001749577.1:n.1167-20724T>C
NM_000282.4:c.1358T>C MANE Select	NP_000273.2:p.Ile453Thr
NM_001352605.2:c.1358T>C	NP_001339534.1:p.Ile453Thr
NM_001352606.2:c.1214T>C	NP_001339535.1:p.Ile405Thr
NM_001352607.2:c.1280T>C	NP_001339536.1:p.Ile427Thr
NM_001352608.2:c.1136T>C	NP_001339537.1:p.Ile379Thr
NM_001352609.2:c.1358T>C	NP_001339538.1:p.Ile453Thr
NM_001352610.2:c.413T>C	NP_001339539.1:p.Ile138Thr
NM_001352611.2:c.413T>C	NP_001339540.1:p.Ile138Thr
NM_001352612.2:c.269T>C	NP_001339541.1:p.Ile90Thr
NR_148027.2:n.1470T>C
NR_148028.2:n.1470T>C
NR_148029.2:n.1392T>C
NR_148030.2:n.1470T>C
NR_148031.2:n.1386T>C
NM_001127692.3:c.1280T>C	NP_001121164.1:p.Ile427Thr
NM_001178004.2:c.1358T>C	NP_001171475.1:p.Ile453Thr