Canonical Allele Identifier: CA388641132

Gene: PCCA

Linked Data

• MyVariant Identifiers: chr13:g.101182407T>G (hg19) ; chr13:g.100530153T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.100530153T>G , CM000675.2:g.100530153T>G	GRCh38
NC_000013.10:g.101182407T>G , CM000675.1:g.101182407T>G	GRCh37
NC_000013.9:g.99980408T>G	NCBI36
NG_008768.1:g.446071T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376285.6:c.2174T>G MANE Select	ENSP00000365462.1:p.Val725Gly
ENST00000636366.1:c.1372T>G
ENST00000636475.1:c.1689T>G
ENST00000637657.1:c.1834T>G
ENST00000647303.1:c.*1658T>G	ENSP00000495663.1:n.*1658T>G
ENST00000376279.7:c.2033T>G	ENSP00000365456.3:p.Val678Gly
ENST00000376285.5:c.2174T>G	ENSP00000365462.1:p.Val725Gly
ENST00000376286.8:c.2096T>G	ENSP00000365463.4:p.Val699Gly
ENST00000428969.1:c.323T>G	ENSP00000399413.1:p.Val108Gly
ENST00000458283.5:c.390T>G
NM_000282.3:c.2174T>G	NP_000273.2:p.Val725Gly
NM_001127692.2:c.2096T>G	NP_001121164.1:p.Val699Gly
NM_001178004.1:c.2033T>G	NP_001171475.1:p.Val678Gly
XR_931615.1:n.2031T>G
NM_001352605.1:c.2120T>G	NP_001339534.1:p.Val707Gly
NM_001352606.1:c.2030T>G	NP_001339535.1:p.Val677Gly
NM_001352607.1:c.1955T>G	NP_001339536.1:p.Val652Gly
NM_001352608.1:c.1952T>G	NP_001339537.1:p.Val651Gly
NM_001352610.1:c.1229T>G	NP_001339539.1:p.Val410Gly
NM_001352611.1:c.1175T>G	NP_001339540.1:p.Val392Gly
NM_001352612.1:c.1085T>G	NP_001339541.1:p.Val362Gly
NR_148027.1:n.2223T>G
NR_148028.1:n.2261T>G
NR_148029.1:n.2183T>G
NR_148030.1:n.2364T>G
NR_148031.1:n.2177T>G
XM_017020609.1:c.2075T>G	XP_016876098.1:p.Val692Gly
XM_017020613.1:c.*102T>G	XP_016876102.1:n.*102T>G
XR_001749567.1:n.2354T>G
XR_001749568.1:n.2441T>G
XR_001749569.1:n.2300T>G
XR_001749576.1:n.1911T>G
XR_001749577.1:n.1808T>G
NM_000282.4:c.2174T>G MANE Select	NP_000273.2:p.Val725Gly
NM_001352605.2:c.2120T>G	NP_001339534.1:p.Val707Gly
NM_001352606.2:c.2030T>G	NP_001339535.1:p.Val677Gly
NM_001352607.2:c.1955T>G	NP_001339536.1:p.Val652Gly
NM_001352608.2:c.1952T>G	NP_001339537.1:p.Val651Gly
NM_001352610.2:c.1229T>G	NP_001339539.1:p.Val410Gly
NM_001352611.2:c.1175T>G	NP_001339540.1:p.Val392Gly
NM_001352612.2:c.1085T>G	NP_001339541.1:p.Val362Gly
NR_148027.2:n.2145T>G
NR_148028.2:n.2183T>G
NR_148029.2:n.2105T>G
NR_148030.2:n.2286T>G
NR_148031.2:n.2099T>G
NM_001127692.3:c.2096T>G	NP_001121164.1:p.Val699Gly
NM_001178004.2:c.2033T>G	NP_001171475.1:p.Val678Gly