Canonical Allele Identifier: CA388640653

Gene: PCCA

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.100527711A>T , CM000675.2:g.100527711A>T	GRCh38
NC_000013.10:g.101179965A>T , CM000675.1:g.101179965A>T	GRCh37
NC_000013.9:g.99977966A>T	NCBI36
NG_008768.1:g.443629A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000282.4:c.2077A>T MANE Select	NP_000273.2:p.Met693Leu
ENST00000376285.6:c.2077A>T MANE Select	ENSP00000365462.1:p.Met693Leu
NM_000282.3:c.2077A>T	NP_000273.2:p.Met693Leu
NM_001127692.2:c.1999A>T	NP_001121164.1:p.Met667Leu
NM_001127692.3:c.1999A>T	NP_001121164.1:p.Met667Leu
NM_001178004.1:c.1936A>T	NP_001171475.1:p.Met646Leu
NM_001178004.2:c.1936A>T	NP_001171475.1:p.Met646Leu
NM_001352605.1:c.2023A>T	NP_001339534.1:p.Met675Leu
NM_001352605.2:c.2023A>T	NP_001339534.1:p.Met675Leu
NM_001352606.1:c.1933A>T	NP_001339535.1:p.Met645Leu
NM_001352606.2:c.1933A>T	NP_001339535.1:p.Met645Leu
NM_001352607.1:c.1858A>T	NP_001339536.1:p.Met620Leu
NM_001352607.2:c.1858A>T	NP_001339536.1:p.Met620Leu
NM_001352608.1:c.1855A>T	NP_001339537.1:p.Met619Leu
NM_001352608.2:c.1855A>T	NP_001339537.1:p.Met619Leu
NM_001352610.1:c.1132A>T	NP_001339539.1:p.Met378Leu
NM_001352610.2:c.1132A>T	NP_001339539.1:p.Met378Leu
NM_001352611.1:c.1078A>T	NP_001339540.1:p.Met360Leu
NM_001352611.2:c.1078A>T	NP_001339540.1:p.Met360Leu
NM_001352612.1:c.988A>T	NP_001339541.1:p.Met330Leu
NM_001352612.2:c.988A>T	NP_001339541.1:p.Met330Leu
NR_148027.1:n.2126A>T
NR_148027.2:n.2048A>T
NR_148028.1:n.2164A>T
NR_148028.2:n.2086A>T
NR_148029.1:n.2086A>T
NR_148029.2:n.2008A>T
NR_148030.1:n.2267A>T
NR_148030.2:n.2189A>T
NR_148031.1:n.2080A>T
NR_148031.2:n.2002A>T
ENST00000376279.7:c.1936A>T	ENSP00000365456.3:p.Met646Leu
ENST00000376285.5:c.2077A>T	ENSP00000365462.1:p.Met693Leu
ENST00000376286.8:c.1999A>T	ENSP00000365463.4:p.Met667Leu
ENST00000428969.1:c.226A>T	ENSP00000399413.1:p.Met76Leu
ENST00000458283.5:c.293A>T
ENST00000636366.1:c.1275A>T
ENST00000636475.1:c.1592A>T
ENST00000637657.1:c.1737A>T
ENST00000647303.1:c.*1561A>T	ENSP00000495663.1:n.*1561A>T
XM_017020609.1:c.1978A>T	XP_016876098.1:p.Met660Leu
XM_017020613.1:c.*5A>T	XP_016876102.1:n.*5A>T
XR_001749567.1:n.2257A>T
XR_001749568.1:n.2344A>T
XR_001749569.1:n.2203A>T
XR_001749574.1:n.2113A>T
XR_001749576.1:n.1814A>T
XR_001749577.1:n.1711A>T
XR_931615.1:n.1934A>T