Canonical Allele Identifier: CA7033897

Gene: PCCA

Linked Data

• ClinVar Variation Id: 1500770
• ClinVar RCV Id: RCV002015902
• dbSNP Id: rs376535469
• ExAC: 13:101179957 T / C
• gnomAD v2: 13-101179957-T-C
• gnomAD v3: 13-100527703-T-C
• gnomAD v4: 13-100527703-T-C
• MyVariant Identifiers: chr13:g.101179957T>C (hg19) ; chr13:g.100527703T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.100527703T>C , CM000675.2:g.100527703T>C	GRCh38
NC_000013.10:g.101179957T>C , CM000675.1:g.101179957T>C	GRCh37
NC_000013.9:g.99977958T>C	NCBI36
NG_008768.1:g.443621T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000376285.6:c.2069T>C MANE Select	ENSP00000365462.1:p.Ile690Thr
ENST00000636366.1:c.1267T>C
ENST00000636475.1:c.1584T>C
ENST00000637657.1:c.1729T>C
ENST00000647303.1:c.*1553T>C	ENSP00000495663.1:n.*1553T>C
ENST00000376279.7:c.1928T>C	ENSP00000365456.3:p.Ile643Thr
ENST00000376285.5:c.2069T>C	ENSP00000365462.1:p.Ile690Thr
ENST00000376286.8:c.1991T>C	ENSP00000365463.4:p.Ile664Thr
ENST00000428969.1:c.218T>C	ENSP00000399413.1:p.Ile73Thr
ENST00000458283.5:c.285T>C
NM_000282.3:c.2069T>C	NP_000273.2:p.Ile690Thr
NM_001127692.2:c.1991T>C	NP_001121164.1:p.Ile664Thr
NM_001178004.1:c.1928T>C	NP_001171475.1:p.Ile643Thr
XR_931615.1:n.1926T>C
NM_001352605.1:c.2015T>C	NP_001339534.1:p.Ile672Thr
NM_001352606.1:c.1925T>C	NP_001339535.1:p.Ile642Thr
NM_001352607.1:c.1850T>C	NP_001339536.1:p.Ile617Thr
NM_001352608.1:c.1847T>C	NP_001339537.1:p.Ile616Thr
NM_001352610.1:c.1124T>C	NP_001339539.1:p.Ile375Thr
NM_001352611.1:c.1070T>C	NP_001339540.1:p.Ile357Thr
NM_001352612.1:c.980T>C	NP_001339541.1:p.Ile327Thr
NR_148027.1:n.2118T>C
NR_148028.1:n.2156T>C
NR_148029.1:n.2078T>C
NR_148030.1:n.2259T>C
NR_148031.1:n.2072T>C
XM_017020609.1:c.1970T>C	XP_016876098.1:p.Ile657Thr
XM_017020613.1:c.2007T>C	XP_016876102.1:p.Asp669=
XR_001749567.1:n.2249T>C
XR_001749568.1:n.2336T>C
XR_001749569.1:n.2195T>C
XR_001749574.1:n.2105T>C
XR_001749576.1:n.1806T>C
XR_001749577.1:n.1703T>C
NM_000282.4:c.2069T>C MANE Select	NP_000273.2:p.Ile690Thr
NM_001352605.2:c.2015T>C	NP_001339534.1:p.Ile672Thr
NM_001352606.2:c.1925T>C	NP_001339535.1:p.Ile642Thr
NM_001352607.2:c.1850T>C	NP_001339536.1:p.Ile617Thr
NM_001352608.2:c.1847T>C	NP_001339537.1:p.Ile616Thr
NM_001352610.2:c.1124T>C	NP_001339539.1:p.Ile375Thr
NM_001352611.2:c.1070T>C	NP_001339540.1:p.Ile357Thr
NM_001352612.2:c.980T>C	NP_001339541.1:p.Ile327Thr
NR_148027.2:n.2040T>C
NR_148028.2:n.2078T>C
NR_148029.2:n.2000T>C
NR_148030.2:n.2181T>C
NR_148031.2:n.1994T>C
NM_001127692.3:c.1991T>C	NP_001121164.1:p.Ile664Thr
NM_001178004.2:c.1928T>C	NP_001171475.1:p.Ile643Thr