Canonical Allele Identifier: CA388640633

Gene: PCCA

Linked Data

• MyVariant Identifiers: chr13:g.101179956A>C (hg19) ; chr13:g.100527702A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.100527702A>C , CM000675.2:g.100527702A>C	GRCh38
NC_000013.10:g.101179956A>C , CM000675.1:g.101179956A>C	GRCh37
NC_000013.9:g.99977957A>C	NCBI36
NG_008768.1:g.443620A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000376285.6:c.2068A>C MANE Select	ENSP00000365462.1:p.Ile690Leu
ENST00000636366.1:c.1266A>C
ENST00000636475.1:c.1583A>C
ENST00000637657.1:c.1728A>C
ENST00000647303.1:c.*1552A>C	ENSP00000495663.1:n.*1552A>C
ENST00000376279.7:c.1927A>C	ENSP00000365456.3:p.Ile643Leu
ENST00000376285.5:c.2068A>C	ENSP00000365462.1:p.Ile690Leu
ENST00000376286.8:c.1990A>C	ENSP00000365463.4:p.Ile664Leu
ENST00000428969.1:c.217A>C	ENSP00000399413.1:p.Ile73Leu
ENST00000458283.5:c.284A>C
NM_000282.3:c.2068A>C	NP_000273.2:p.Ile690Leu
NM_001127692.2:c.1990A>C	NP_001121164.1:p.Ile664Leu
NM_001178004.1:c.1927A>C	NP_001171475.1:p.Ile643Leu
XR_931615.1:n.1925A>C
NM_001352605.1:c.2014A>C	NP_001339534.1:p.Ile672Leu
NM_001352606.1:c.1924A>C	NP_001339535.1:p.Ile642Leu
NM_001352607.1:c.1849A>C	NP_001339536.1:p.Ile617Leu
NM_001352608.1:c.1846A>C	NP_001339537.1:p.Ile616Leu
NM_001352610.1:c.1123A>C	NP_001339539.1:p.Ile375Leu
NM_001352611.1:c.1069A>C	NP_001339540.1:p.Ile357Leu
NM_001352612.1:c.979A>C	NP_001339541.1:p.Ile327Leu
NR_148027.1:n.2117A>C
NR_148028.1:n.2155A>C
NR_148029.1:n.2077A>C
NR_148030.1:n.2258A>C
NR_148031.1:n.2071A>C
XM_017020609.1:c.1969A>C	XP_016876098.1:p.Ile657Leu
XM_017020613.1:c.2006A>C	XP_016876102.1:p.Asp669Ala
XR_001749567.1:n.2248A>C
XR_001749568.1:n.2335A>C
XR_001749569.1:n.2194A>C
XR_001749574.1:n.2104A>C
XR_001749576.1:n.1805A>C
XR_001749577.1:n.1702A>C
NM_000282.4:c.2068A>C MANE Select	NP_000273.2:p.Ile690Leu
NM_001352605.2:c.2014A>C	NP_001339534.1:p.Ile672Leu
NM_001352606.2:c.1924A>C	NP_001339535.1:p.Ile642Leu
NM_001352607.2:c.1849A>C	NP_001339536.1:p.Ile617Leu
NM_001352608.2:c.1846A>C	NP_001339537.1:p.Ile616Leu
NM_001352610.2:c.1123A>C	NP_001339539.1:p.Ile375Leu
NM_001352611.2:c.1069A>C	NP_001339540.1:p.Ile357Leu
NM_001352612.2:c.979A>C	NP_001339541.1:p.Ile327Leu
NR_148027.2:n.2039A>C
NR_148028.2:n.2077A>C
NR_148029.2:n.1999A>C
NR_148030.2:n.2180A>C
NR_148031.2:n.1993A>C
NM_001127692.3:c.1990A>C	NP_001121164.1:p.Ile664Leu
NM_001178004.2:c.1927A>C	NP_001171475.1:p.Ile643Leu