Canonical Allele Identifier: CA388641112

Gene: PCCA

Linked Data

• MyVariant Identifiers: chr13:g.101182397G>T (hg19) ; chr13:g.100530143G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.100530143G>T , CM000675.2:g.100530143G>T	GRCh38
NC_000013.10:g.101182397G>T , CM000675.1:g.101182397G>T	GRCh37
NC_000013.9:g.99980398G>T	NCBI36
NG_008768.1:g.446061G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376285.6:c.2164G>T MANE Select	ENSP00000365462.1:p.Asp722Tyr
ENST00000636366.1:c.1362G>T
ENST00000636475.1:c.1679G>T
ENST00000637657.1:c.1824G>T
ENST00000647303.1:c.*1648G>T	ENSP00000495663.1:n.*1648G>T
ENST00000376279.7:c.2023G>T	ENSP00000365456.3:p.Asp675Tyr
ENST00000376285.5:c.2164G>T	ENSP00000365462.1:p.Asp722Tyr
ENST00000376286.8:c.2086G>T	ENSP00000365463.4:p.Asp696Tyr
ENST00000428969.1:c.313G>T	ENSP00000399413.1:p.Asp105Tyr
ENST00000458283.5:c.380G>T
NM_000282.3:c.2164G>T	NP_000273.2:p.Asp722Tyr
NM_001127692.2:c.2086G>T	NP_001121164.1:p.Asp696Tyr
NM_001178004.1:c.2023G>T	NP_001171475.1:p.Asp675Tyr
XR_931615.1:n.2021G>T
NM_001352605.1:c.2110G>T	NP_001339534.1:p.Asp704Tyr
NM_001352606.1:c.2020G>T	NP_001339535.1:p.Asp674Tyr
NM_001352607.1:c.1945G>T	NP_001339536.1:p.Asp649Tyr
NM_001352608.1:c.1942G>T	NP_001339537.1:p.Asp648Tyr
NM_001352610.1:c.1219G>T	NP_001339539.1:p.Asp407Tyr
NM_001352611.1:c.1165G>T	NP_001339540.1:p.Asp389Tyr
NM_001352612.1:c.1075G>T	NP_001339541.1:p.Asp359Tyr
NR_148027.1:n.2213G>T
NR_148028.1:n.2251G>T
NR_148029.1:n.2173G>T
NR_148030.1:n.2354G>T
NR_148031.1:n.2167G>T
XM_017020609.1:c.2065G>T	XP_016876098.1:p.Asp689Tyr
XM_017020613.1:c.*92G>T	XP_016876102.1:n.*92G>T
XR_001749567.1:n.2344G>T
XR_001749568.1:n.2431G>T
XR_001749569.1:n.2290G>T
XR_001749576.1:n.1901G>T
XR_001749577.1:n.1798G>T
NM_000282.4:c.2164G>T MANE Select	NP_000273.2:p.Asp722Tyr
NM_001352605.2:c.2110G>T	NP_001339534.1:p.Asp704Tyr
NM_001352606.2:c.2020G>T	NP_001339535.1:p.Asp674Tyr
NM_001352607.2:c.1945G>T	NP_001339536.1:p.Asp649Tyr
NM_001352608.2:c.1942G>T	NP_001339537.1:p.Asp648Tyr
NM_001352610.2:c.1219G>T	NP_001339539.1:p.Asp407Tyr
NM_001352611.2:c.1165G>T	NP_001339540.1:p.Asp389Tyr
NM_001352612.2:c.1075G>T	NP_001339541.1:p.Asp359Tyr
NR_148027.2:n.2135G>T
NR_148028.2:n.2173G>T
NR_148029.2:n.2095G>T
NR_148030.2:n.2276G>T
NR_148031.2:n.2089G>T
NM_001127692.3:c.2086G>T	NP_001121164.1:p.Asp696Tyr
NM_001178004.2:c.2023G>T	NP_001171475.1:p.Asp675Tyr