Canonical Allele Identifier: CA388640623

Gene: PCCA

Linked Data

• MyVariant Identifiers: chr13:g.101179951G>T (hg19) ; chr13:g.100527697G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.100527697G>T , CM000675.2:g.100527697G>T	GRCh38
NC_000013.10:g.101179951G>T , CM000675.1:g.101179951G>T	GRCh37
NC_000013.9:g.99977952G>T	NCBI36
NG_008768.1:g.443615G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000376285.6:c.2063G>T MANE Select	ENSP00000365462.1:p.Cys688Phe
ENST00000636366.1:c.1261G>T
ENST00000636475.1:c.1578G>T
ENST00000637657.1:c.1723G>T
ENST00000647303.1:c.*1547G>T	ENSP00000495663.1:n.*1547G>T
ENST00000376279.7:c.1922G>T	ENSP00000365456.3:p.Cys641Phe
ENST00000376285.5:c.2063G>T	ENSP00000365462.1:p.Cys688Phe
ENST00000376286.8:c.1985G>T	ENSP00000365463.4:p.Cys662Phe
ENST00000428969.1:c.212G>T	ENSP00000399413.1:p.Cys71Phe
ENST00000458283.5:c.279G>T
NM_000282.3:c.2063G>T	NP_000273.2:p.Cys688Phe
NM_001127692.2:c.1985G>T	NP_001121164.1:p.Cys662Phe
NM_001178004.1:c.1922G>T	NP_001171475.1:p.Cys641Phe
XR_931615.1:n.1920G>T
NM_001352605.1:c.2009G>T	NP_001339534.1:p.Cys670Phe
NM_001352606.1:c.1919G>T	NP_001339535.1:p.Cys640Phe
NM_001352607.1:c.1844G>T	NP_001339536.1:p.Cys615Phe
NM_001352608.1:c.1841G>T	NP_001339537.1:p.Cys614Phe
NM_001352610.1:c.1118G>T	NP_001339539.1:p.Cys373Phe
NM_001352611.1:c.1064G>T	NP_001339540.1:p.Cys355Phe
NM_001352612.1:c.974G>T	NP_001339541.1:p.Cys325Phe
NR_148027.1:n.2112G>T
NR_148028.1:n.2150G>T
NR_148029.1:n.2072G>T
NR_148030.1:n.2253G>T
NR_148031.1:n.2066G>T
XM_017020609.1:c.1964G>T	XP_016876098.1:p.Cys655Phe
XM_017020613.1:c.2001G>T	XP_016876102.1:p.Leu667Phe
XR_001749567.1:n.2243G>T
XR_001749568.1:n.2330G>T
XR_001749569.1:n.2189G>T
XR_001749574.1:n.2099G>T
XR_001749576.1:n.1800G>T
XR_001749577.1:n.1697G>T
NM_000282.4:c.2063G>T MANE Select	NP_000273.2:p.Cys688Phe
NM_001352605.2:c.2009G>T	NP_001339534.1:p.Cys670Phe
NM_001352606.2:c.1919G>T	NP_001339535.1:p.Cys640Phe
NM_001352607.2:c.1844G>T	NP_001339536.1:p.Cys615Phe
NM_001352608.2:c.1841G>T	NP_001339537.1:p.Cys614Phe
NM_001352610.2:c.1118G>T	NP_001339539.1:p.Cys373Phe
NM_001352611.2:c.1064G>T	NP_001339540.1:p.Cys355Phe
NM_001352612.2:c.974G>T	NP_001339541.1:p.Cys325Phe
NR_148027.2:n.2034G>T
NR_148028.2:n.2072G>T
NR_148029.2:n.1994G>T
NR_148030.2:n.2175G>T
NR_148031.2:n.1988G>T
NM_001127692.3:c.1985G>T	NP_001121164.1:p.Cys662Phe
NM_001178004.2:c.1922G>T	NP_001171475.1:p.Cys641Phe