Canonical Allele Identifier: CA388641095

Gene: PCCA

Linked Data

• MyVariant Identifiers: chr13:g.101182389G>T (hg19) ; chr13:g.100530135G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.100530135G>T , CM000675.2:g.100530135G>T	GRCh38
NC_000013.10:g.101182389G>T , CM000675.1:g.101182389G>T	GRCh37
NC_000013.9:g.99980390G>T	NCBI36
NG_008768.1:g.446053G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376285.6:c.2156G>T MANE Select	ENSP00000365462.1:p.Gly719Val
ENST00000636366.1:c.1354G>T
ENST00000636475.1:c.1671G>T
ENST00000637657.1:c.1816G>T
ENST00000647303.1:c.*1640G>T	ENSP00000495663.1:n.*1640G>T
ENST00000376279.7:c.2015G>T	ENSP00000365456.3:p.Gly672Val
ENST00000376285.5:c.2156G>T	ENSP00000365462.1:p.Gly719Val
ENST00000376286.8:c.2078G>T	ENSP00000365463.4:p.Gly693Val
ENST00000428969.1:c.305G>T	ENSP00000399413.1:p.Gly102Val
ENST00000458283.5:c.372G>T
NM_000282.3:c.2156G>T	NP_000273.2:p.Gly719Val
NM_001127692.2:c.2078G>T	NP_001121164.1:p.Gly693Val
NM_001178004.1:c.2015G>T	NP_001171475.1:p.Gly672Val
XR_931615.1:n.2013G>T
NM_001352605.1:c.2102G>T	NP_001339534.1:p.Gly701Val
NM_001352606.1:c.2012G>T	NP_001339535.1:p.Gly671Val
NM_001352607.1:c.1937G>T	NP_001339536.1:p.Gly646Val
NM_001352608.1:c.1934G>T	NP_001339537.1:p.Gly645Val
NM_001352610.1:c.1211G>T	NP_001339539.1:p.Gly404Val
NM_001352611.1:c.1157G>T	NP_001339540.1:p.Gly386Val
NM_001352612.1:c.1067G>T	NP_001339541.1:p.Gly356Val
NR_148027.1:n.2205G>T
NR_148028.1:n.2243G>T
NR_148029.1:n.2165G>T
NR_148030.1:n.2346G>T
NR_148031.1:n.2159G>T
XM_017020609.1:c.2057G>T	XP_016876098.1:p.Gly686Val
XM_017020613.1:c.*84G>T	XP_016876102.1:n.*84G>T
XR_001749567.1:n.2336G>T
XR_001749568.1:n.2423G>T
XR_001749569.1:n.2282G>T
XR_001749576.1:n.1893G>T
XR_001749577.1:n.1790G>T
NM_000282.4:c.2156G>T MANE Select	NP_000273.2:p.Gly719Val
NM_001352605.2:c.2102G>T	NP_001339534.1:p.Gly701Val
NM_001352606.2:c.2012G>T	NP_001339535.1:p.Gly671Val
NM_001352607.2:c.1937G>T	NP_001339536.1:p.Gly646Val
NM_001352608.2:c.1934G>T	NP_001339537.1:p.Gly645Val
NM_001352610.2:c.1211G>T	NP_001339539.1:p.Gly404Val
NM_001352611.2:c.1157G>T	NP_001339540.1:p.Gly386Val
NM_001352612.2:c.1067G>T	NP_001339541.1:p.Gly356Val
NR_148027.2:n.2127G>T
NR_148028.2:n.2165G>T
NR_148029.2:n.2087G>T
NR_148030.2:n.2268G>T
NR_148031.2:n.2081G>T
NM_001127692.3:c.2078G>T	NP_001121164.1:p.Gly693Val
NM_001178004.2:c.2015G>T	NP_001171475.1:p.Gly672Val