Canonical Allele Identifier: CA484534815

Gene: PCCA

Linked Data

• MyVariant Identifiers: chr13:g.101179958T>C (hg19)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000376285.6:c.2070T>C MANE Select	ENSP00000365462.1:p.Ile690=
ENST00000636366.1:c.1268T>C
ENST00000636475.1:c.1585T>C
ENST00000637657.1:c.1730T>C
ENST00000647303.1:c.*1554T>C	ENSP00000495663.1:n.*1554T>C
ENST00000376279.7:c.1929T>C	ENSP00000365456.3:p.Ile643=
ENST00000376285.5:c.2070T>C	ENSP00000365462.1:p.Ile690=
ENST00000376286.8:c.1992T>C	ENSP00000365463.4:p.Ile664=
ENST00000428969.1:c.219T>C	ENSP00000399413.1:p.Ile73=
ENST00000458283.5:c.286T>C
NM_000282.3:c.2070T>C	NP_000273.2:p.Ile690=
NM_001127692.2:c.1992T>C	NP_001121164.1:p.Ile664=
NM_001178004.1:c.1929T>C	NP_001171475.1:p.Ile643=
XR_931615.1:n.1927T>C
NM_001352605.1:c.2016T>C	NP_001339534.1:p.Ile672=
NM_001352606.1:c.1926T>C	NP_001339535.1:p.Ile642=
NM_001352607.1:c.1851T>C	NP_001339536.1:p.Ile617=
NM_001352608.1:c.1848T>C	NP_001339537.1:p.Ile616=
NM_001352610.1:c.1125T>C	NP_001339539.1:p.Ile375=
NM_001352611.1:c.1071T>C	NP_001339540.1:p.Ile357=
NM_001352612.1:c.981T>C	NP_001339541.1:p.Ile327=
NR_148027.1:n.2119T>C
NR_148028.1:n.2157T>C
NR_148029.1:n.2079T>C
NR_148030.1:n.2260T>C
NR_148031.1:n.2073T>C
XM_017020609.1:c.1971T>C	XP_016876098.1:p.Ile657=
XM_017020613.1:c.2008T>C	XP_016876102.1:p.Ter670Arg
XR_001749567.1:n.2250T>C
XR_001749568.1:n.2337T>C
XR_001749569.1:n.2196T>C
XR_001749574.1:n.2106T>C
XR_001749576.1:n.1807T>C
XR_001749577.1:n.1704T>C
NM_000282.4:c.2070T>C MANE Select	NP_000273.2:p.Ile690=
NM_001352605.2:c.2016T>C	NP_001339534.1:p.Ile672=
NM_001352606.2:c.1926T>C	NP_001339535.1:p.Ile642=
NM_001352607.2:c.1851T>C	NP_001339536.1:p.Ile617=
NM_001352608.2:c.1848T>C	NP_001339537.1:p.Ile616=
NM_001352610.2:c.1125T>C	NP_001339539.1:p.Ile375=
NM_001352611.2:c.1071T>C	NP_001339540.1:p.Ile357=
NM_001352612.2:c.981T>C	NP_001339541.1:p.Ile327=
NR_148027.2:n.2041T>C
NR_148028.2:n.2079T>C
NR_148029.2:n.2001T>C
NR_148030.2:n.2182T>C
NR_148031.2:n.1995T>C
NM_001127692.3:c.1992T>C	NP_001121164.1:p.Ile664=
NM_001178004.2:c.1929T>C	NP_001171475.1:p.Ile643=