Canonical Allele Identifier: CA388640635

Gene: PCCA

Linked Data

• MyVariant Identifiers: chr13:g.101179957T>G (hg19) ; chr13:g.100527703T>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376285.6:c.2069T>G MANE Select	ENSP00000365462.1:p.Ile690Ser
ENST00000636366.1:c.1267T>G
ENST00000636475.1:c.1584T>G
ENST00000637657.1:c.1729T>G
ENST00000647303.1:c.*1553T>G	ENSP00000495663.1:n.*1553T>G
ENST00000376279.7:c.1928T>G	ENSP00000365456.3:p.Ile643Ser
ENST00000376285.5:c.2069T>G	ENSP00000365462.1:p.Ile690Ser
ENST00000376286.8:c.1991T>G	ENSP00000365463.4:p.Ile664Ser
ENST00000428969.1:c.218T>G	ENSP00000399413.1:p.Ile73Ser
ENST00000458283.5:c.285T>G
NM_000282.3:c.2069T>G	NP_000273.2:p.Ile690Ser
NM_001127692.2:c.1991T>G	NP_001121164.1:p.Ile664Ser
NM_001178004.1:c.1928T>G	NP_001171475.1:p.Ile643Ser
XR_931615.1:n.1926T>G
NM_001352605.1:c.2015T>G	NP_001339534.1:p.Ile672Ser
NM_001352606.1:c.1925T>G	NP_001339535.1:p.Ile642Ser
NM_001352607.1:c.1850T>G	NP_001339536.1:p.Ile617Ser
NM_001352608.1:c.1847T>G	NP_001339537.1:p.Ile616Ser
NM_001352610.1:c.1124T>G	NP_001339539.1:p.Ile375Ser
NM_001352611.1:c.1070T>G	NP_001339540.1:p.Ile357Ser
NM_001352612.1:c.980T>G	NP_001339541.1:p.Ile327Ser
NR_148027.1:n.2118T>G
NR_148028.1:n.2156T>G
NR_148029.1:n.2078T>G
NR_148030.1:n.2259T>G
NR_148031.1:n.2072T>G
XM_017020609.1:c.1970T>G	XP_016876098.1:p.Ile657Ser
XM_017020613.1:c.2007T>G	XP_016876102.1:p.Asp669Glu
XR_001749567.1:n.2249T>G
XR_001749568.1:n.2336T>G
XR_001749569.1:n.2195T>G
XR_001749574.1:n.2105T>G
XR_001749576.1:n.1806T>G
XR_001749577.1:n.1703T>G
NM_000282.4:c.2069T>G MANE Select	NP_000273.2:p.Ile690Ser
NM_001352605.2:c.2015T>G	NP_001339534.1:p.Ile672Ser
NM_001352606.2:c.1925T>G	NP_001339535.1:p.Ile642Ser
NM_001352607.2:c.1850T>G	NP_001339536.1:p.Ile617Ser
NM_001352608.2:c.1847T>G	NP_001339537.1:p.Ile616Ser
NM_001352610.2:c.1124T>G	NP_001339539.1:p.Ile375Ser
NM_001352611.2:c.1070T>G	NP_001339540.1:p.Ile357Ser
NM_001352612.2:c.980T>G	NP_001339541.1:p.Ile327Ser
NR_148027.2:n.2040T>G
NR_148028.2:n.2078T>G
NR_148029.2:n.2000T>G
NR_148030.2:n.2181T>G
NR_148031.2:n.1994T>G
NM_001127692.3:c.1991T>G	NP_001121164.1:p.Ile664Ser
NM_001178004.2:c.1928T>G	NP_001171475.1:p.Ile643Ser