Canonical Allele Identifier: CA388640636

Gene: PCCA

Linked Data

• MyVariant Identifiers: chr13:g.101179958T>G (hg19) ; chr13:g.100527704T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.100527704T>G , CM000675.2:g.100527704T>G	GRCh38
NC_000013.10:g.101179958T>G , CM000675.1:g.101179958T>G	GRCh37
NC_000013.9:g.99977959T>G	NCBI36
NG_008768.1:g.443622T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000376285.6:c.2070T>G MANE Select	ENSP00000365462.1:p.Ile690Met
ENST00000636366.1:c.1268T>G
ENST00000636475.1:c.1585T>G
ENST00000637657.1:c.1730T>G
ENST00000647303.1:c.*1554T>G	ENSP00000495663.1:n.*1554T>G
ENST00000376279.7:c.1929T>G	ENSP00000365456.3:p.Ile643Met
ENST00000376285.5:c.2070T>G	ENSP00000365462.1:p.Ile690Met
ENST00000376286.8:c.1992T>G	ENSP00000365463.4:p.Ile664Met
ENST00000428969.1:c.219T>G	ENSP00000399413.1:p.Ile73Met
ENST00000458283.5:c.286T>G
NM_000282.3:c.2070T>G	NP_000273.2:p.Ile690Met
NM_001127692.2:c.1992T>G	NP_001121164.1:p.Ile664Met
NM_001178004.1:c.1929T>G	NP_001171475.1:p.Ile643Met
XR_931615.1:n.1927T>G
NM_001352605.1:c.2016T>G	NP_001339534.1:p.Ile672Met
NM_001352606.1:c.1926T>G	NP_001339535.1:p.Ile642Met
NM_001352607.1:c.1851T>G	NP_001339536.1:p.Ile617Met
NM_001352608.1:c.1848T>G	NP_001339537.1:p.Ile616Met
NM_001352610.1:c.1125T>G	NP_001339539.1:p.Ile375Met
NM_001352611.1:c.1071T>G	NP_001339540.1:p.Ile357Met
NM_001352612.1:c.981T>G	NP_001339541.1:p.Ile327Met
NR_148027.1:n.2119T>G
NR_148028.1:n.2157T>G
NR_148029.1:n.2079T>G
NR_148030.1:n.2260T>G
NR_148031.1:n.2073T>G
XM_017020609.1:c.1971T>G	XP_016876098.1:p.Ile657Met
XM_017020613.1:c.2008T>G	XP_016876102.1:p.Ter670Gly
XR_001749567.1:n.2250T>G
XR_001749568.1:n.2337T>G
XR_001749569.1:n.2196T>G
XR_001749574.1:n.2106T>G
XR_001749576.1:n.1807T>G
XR_001749577.1:n.1704T>G
NM_000282.4:c.2070T>G MANE Select	NP_000273.2:p.Ile690Met
NM_001352605.2:c.2016T>G	NP_001339534.1:p.Ile672Met
NM_001352606.2:c.1926T>G	NP_001339535.1:p.Ile642Met
NM_001352607.2:c.1851T>G	NP_001339536.1:p.Ile617Met
NM_001352608.2:c.1848T>G	NP_001339537.1:p.Ile616Met
NM_001352610.2:c.1125T>G	NP_001339539.1:p.Ile375Met
NM_001352611.2:c.1071T>G	NP_001339540.1:p.Ile357Met
NM_001352612.2:c.981T>G	NP_001339541.1:p.Ile327Met
NR_148027.2:n.2041T>G
NR_148028.2:n.2079T>G
NR_148029.2:n.2001T>G
NR_148030.2:n.2182T>G
NR_148031.2:n.1995T>G
NM_001127692.3:c.1992T>G	NP_001121164.1:p.Ile664Met
NM_001178004.2:c.1929T>G	NP_001171475.1:p.Ile643Met