Canonical Allele Identifier: CA388695938

Gene: PCCA

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.100449261C>T , CM000675.2:g.100449261C>T	GRCh38
NC_000013.10:g.101101515C>T , CM000675.1:g.101101515C>T	GRCh37
NC_000013.9:g.99899516C>T	NCBI36
NG_008768.1:g.365179C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000282.4:c.1855C>T MANE Select	NP_000273.2:p.Arg619Ter
ENST00000376285.6:c.1855C>T MANE Select	ENSP00000365462.1:p.Arg619Ter
NM_000282.3:c.1855C>T	NP_000273.2:p.Arg619Ter
NM_001127692.2:c.1777C>T	NP_001121164.1:p.Arg593Ter
NM_001127692.3:c.1777C>T	NP_001121164.1:p.Arg593Ter
NM_001178004.1:c.1855C>T	NP_001171475.1:p.Arg619Ter
NM_001178004.2:c.1855C>T	NP_001171475.1:p.Arg619Ter
NM_001352605.1:c.1845+23530C>T	NP_001339534.1:n.1845+23530C>T
NM_001352605.2:c.1845+23530C>T	NP_001339534.1:n.1845+23530C>T
NM_001352606.1:c.1711C>T	NP_001339535.1:p.Arg571Ter
NM_001352606.2:c.1711C>T	NP_001339535.1:p.Arg571Ter
NM_001352607.1:c.1777C>T	NP_001339536.1:p.Arg593Ter
NM_001352607.2:c.1777C>T	NP_001339536.1:p.Arg593Ter
NM_001352608.1:c.1633C>T	NP_001339537.1:p.Arg545Ter
NM_001352608.2:c.1633C>T	NP_001339537.1:p.Arg545Ter
NM_001352609.1:c.1855C>T	NP_001339538.1:p.Arg619Ter
NM_001352609.2:c.1855C>T	NP_001339538.1:p.Arg619Ter
NM_001352610.1:c.910C>T	NP_001339539.1:p.Arg304Ter
NM_001352610.2:c.910C>T	NP_001339539.1:p.Arg304Ter
NM_001352611.1:c.900+23530C>T	NP_001339540.1:n.900+23530C>T
NM_001352611.2:c.900+23530C>T	NP_001339540.1:n.900+23530C>T
NM_001352612.1:c.766C>T	NP_001339541.1:p.Arg256Ter
NM_001352612.2:c.766C>T	NP_001339541.1:p.Arg256Ter
NR_148027.1:n.2045C>T
NR_148027.2:n.1967C>T
NR_148028.1:n.1942C>T
NR_148028.2:n.1864C>T
NR_148029.1:n.1864C>T
NR_148029.2:n.1786C>T
NR_148030.1:n.2045C>T
NR_148030.2:n.1967C>T
NR_148031.1:n.1858C>T
NR_148031.2:n.1780C>T
ENST00000376279.7:c.1855C>T	ENSP00000365456.3:p.Arg619Ter
ENST00000376285.5:c.1855C>T	ENSP00000365462.1:p.Arg619Ter
ENST00000376286.8:c.1777C>T	ENSP00000365463.4:p.Arg593Ter
ENST00000413170.1:c.185C>T
ENST00000458283.5:c.212C>T
ENST00000636366.1:c.1053C>T
ENST00000636475.1:c.1370C>T
ENST00000637657.1:c.1515C>T
ENST00000647303.1:c.*1339C>T	ENSP00000495663.1:n.*1339C>T
XM_005254059.2:c.1855C>T	XP_005254116.1:p.Arg619Ter
XM_011521093.1:c.1855C>T	XP_011519395.1:p.Arg619Ter
XM_017020605.1:c.1934C>T	XP_016876094.1:p.Ser645Leu
XM_017020606.1:c.1856C>T	XP_016876095.1:p.Ser619Leu
XM_017020607.1:c.1835C>T	XP_016876096.1:p.Ser612Leu
XM_017020609.1:c.1756C>T	XP_016876098.1:p.Arg586Ter
XM_017020611.1:c.1934C>T	XP_016876100.1:p.Ser645Leu
XM_017020612.1:c.1934C>T	XP_016876101.1:p.Ser645Leu
XM_017020613.1:c.1934C>T	XP_016876102.1:p.Ser645Leu
XR_001749567.1:n.2035C>T
XR_001749568.1:n.2122C>T
XR_001749569.1:n.2122C>T
XR_001749574.1:n.1891C>T
XR_001749576.1:n.1592C>T
XR_001749577.1:n.1489C>T
XR_931615.1:n.1853C>T