Canonical Allele Identifier: CA484534577

Gene: PCCA

Linked Data

• dbSNP Id: rs1468526380
• gnomAD v3: 13-100515429-C-T
• gnomAD v4: 13-100515429-C-T
• MyVariant Identifiers: chr13:g.101167683C>T (hg19) ; chr13:g.100515429C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.100515429C>T , CM000675.2:g.100515429C>T	GRCh38
NC_000013.10:g.101167683C>T , CM000675.1:g.101167683C>T	GRCh37
NC_000013.9:g.99965684C>T	NCBI36
NG_008768.1:g.431347C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000376285.6:c.1902C>T MANE Select	ENSP00000365462.1:p.Tyr634=
ENST00000636366.1:c.1100C>T
ENST00000636475.1:c.1417C>T
ENST00000637657.1:c.1562C>T
ENST00000647303.1:c.*1386C>T	ENSP00000495663.1:n.*1386C>T
ENST00000376279.7:c.1900-12246C>T	ENSP00000365456.3:n.1900-12246C>T
ENST00000376285.5:c.1902C>T	ENSP00000365462.1:p.Tyr634=
ENST00000376286.8:c.1824C>T	ENSP00000365463.4:p.Tyr608=
ENST00000428969.1:c.3C>T	ENSP00000399413.1:p.Tyr1=
ENST00000458283.5:c.257-12246C>T
NM_000282.3:c.1902C>T	NP_000273.2:p.Tyr634=
NM_001127692.2:c.1824C>T	NP_001121164.1:p.Tyr608=
NM_001178004.1:c.1900-12246C>T	NP_001171475.1:n.1900-12246C>T
XR_931615.1:n.1898-12246C>T
NM_001352605.1:c.1848C>T	NP_001339534.1:p.Tyr616=
NM_001352606.1:c.1758C>T	NP_001339535.1:p.Tyr586=
NM_001352607.1:c.1822-12246C>T	NP_001339536.1:n.1822-12246C>T
NM_001352608.1:c.1680C>T	NP_001339537.1:p.Tyr560=
NM_001352610.1:c.957C>T	NP_001339539.1:p.Tyr319=
NM_001352611.1:c.903C>T	NP_001339540.1:p.Tyr301=
NM_001352612.1:c.813C>T	NP_001339541.1:p.Tyr271=
NR_148027.1:n.2090-12246C>T
NR_148028.1:n.1989C>T
NR_148029.1:n.1911C>T
NR_148030.1:n.2092C>T
NR_148031.1:n.1905C>T
XM_017020609.1:c.1803C>T	XP_016876098.1:p.Tyr601=
XM_017020612.1:c.1981C>T	XP_016876101.1:p.Gln661Ter
XM_017020613.1:c.1979-12246C>T	XP_016876102.1:n.1979-12246C>T
XR_001749567.1:n.2082C>T
XR_001749568.1:n.2169C>T
XR_001749569.1:n.2167-12246C>T
XR_001749574.1:n.1938C>T
XR_001749576.1:n.1639C>T
XR_001749577.1:n.1536C>T
NM_000282.4:c.1902C>T MANE Select	NP_000273.2:p.Tyr634=
NM_001352605.2:c.1848C>T	NP_001339534.1:p.Tyr616=
NM_001352606.2:c.1758C>T	NP_001339535.1:p.Tyr586=
NM_001352607.2:c.1822-12246C>T	NP_001339536.1:n.1822-12246C>T
NM_001352608.2:c.1680C>T	NP_001339537.1:p.Tyr560=
NM_001352610.2:c.957C>T	NP_001339539.1:p.Tyr319=
NM_001352611.2:c.903C>T	NP_001339540.1:p.Tyr301=
NM_001352612.2:c.813C>T	NP_001339541.1:p.Tyr271=
NR_148027.2:n.2012-12246C>T
NR_148028.2:n.1911C>T
NR_148029.2:n.1833C>T
NR_148030.2:n.2014C>T
NR_148031.2:n.1827C>T
NM_001127692.3:c.1824C>T	NP_001121164.1:p.Tyr608=
NM_001178004.2:c.1900-12246C>T	NP_001171475.1:n.1900-12246C>T