Canonical Allele Identifier: CA388640631

Gene: PCCA

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000376285.6:c.2068A>T MANE Select	ENSP00000365462.1:p.Ile690Phe
ENST00000636366.1:c.1266A>T
ENST00000636475.1:c.1583A>T
ENST00000637657.1:c.1728A>T
ENST00000647303.1:c.*1552A>T	ENSP00000495663.1:n.*1552A>T
ENST00000376279.7:c.1927A>T	ENSP00000365456.3:p.Ile643Phe
ENST00000376285.5:c.2068A>T	ENSP00000365462.1:p.Ile690Phe
ENST00000376286.8:c.1990A>T	ENSP00000365463.4:p.Ile664Phe
ENST00000428969.1:c.217A>T	ENSP00000399413.1:p.Ile73Phe
ENST00000458283.5:c.284A>T
NM_000282.3:c.2068A>T	NP_000273.2:p.Ile690Phe
NM_001127692.2:c.1990A>T	NP_001121164.1:p.Ile664Phe
NM_001178004.1:c.1927A>T	NP_001171475.1:p.Ile643Phe
XR_931615.1:n.1925A>T
NM_001352605.1:c.2014A>T	NP_001339534.1:p.Ile672Phe
NM_001352606.1:c.1924A>T	NP_001339535.1:p.Ile642Phe
NM_001352607.1:c.1849A>T	NP_001339536.1:p.Ile617Phe
NM_001352608.1:c.1846A>T	NP_001339537.1:p.Ile616Phe
NM_001352610.1:c.1123A>T	NP_001339539.1:p.Ile375Phe
NM_001352611.1:c.1069A>T	NP_001339540.1:p.Ile357Phe
NM_001352612.1:c.979A>T	NP_001339541.1:p.Ile327Phe
NR_148027.1:n.2117A>T
NR_148028.1:n.2155A>T
NR_148029.1:n.2077A>T
NR_148030.1:n.2258A>T
NR_148031.1:n.2071A>T
XM_017020609.1:c.1969A>T	XP_016876098.1:p.Ile657Phe
XM_017020613.1:c.2006A>T	XP_016876102.1:p.Asp669Val
XR_001749567.1:n.2248A>T
XR_001749568.1:n.2335A>T
XR_001749569.1:n.2194A>T
XR_001749574.1:n.2104A>T
XR_001749576.1:n.1805A>T
XR_001749577.1:n.1702A>T
NM_000282.4:c.2068A>T MANE Select	NP_000273.2:p.Ile690Phe
NM_001352605.2:c.2014A>T	NP_001339534.1:p.Ile672Phe
NM_001352606.2:c.1924A>T	NP_001339535.1:p.Ile642Phe
NM_001352607.2:c.1849A>T	NP_001339536.1:p.Ile617Phe
NM_001352608.2:c.1846A>T	NP_001339537.1:p.Ile616Phe
NM_001352610.2:c.1123A>T	NP_001339539.1:p.Ile375Phe
NM_001352611.2:c.1069A>T	NP_001339540.1:p.Ile357Phe
NM_001352612.2:c.979A>T	NP_001339541.1:p.Ile327Phe
NR_148027.2:n.2039A>T
NR_148028.2:n.2077A>T
NR_148029.2:n.1999A>T
NR_148030.2:n.2180A>T
NR_148031.2:n.1993A>T
NM_001127692.3:c.1990A>T	NP_001121164.1:p.Ile664Phe
NM_001178004.2:c.1927A>T	NP_001171475.1:p.Ile643Phe