Canonical Allele Identifier: CA255371966

Gene: PCCA

Linked Data

• dbSNP Id: rs905903741
• gnomAD v2: 13-101179954-T-C
• gnomAD v3: 13-100527700-T-C
• gnomAD v4: 13-100527700-T-C
• MyVariant Identifiers: chr13:g.101179954T>C (hg19) ; chr13:g.100527700T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.100527700T>C , CM000675.2:g.100527700T>C	GRCh38
NC_000013.10:g.101179954T>C , CM000675.1:g.101179954T>C	GRCh37
NC_000013.9:g.99977955T>C	NCBI36
NG_008768.1:g.443618T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000376285.6:c.2066T>C MANE Select	ENSP00000365462.1:p.Val689Ala
ENST00000636366.1:c.1264T>C
ENST00000636475.1:c.1581T>C
ENST00000637657.1:c.1726T>C
ENST00000647303.1:c.*1550T>C	ENSP00000495663.1:n.*1550T>C
ENST00000376279.7:c.1925T>C	ENSP00000365456.3:p.Val642Ala
ENST00000376285.5:c.2066T>C	ENSP00000365462.1:p.Val689Ala
ENST00000376286.8:c.1988T>C	ENSP00000365463.4:p.Val663Ala
ENST00000428969.1:c.215T>C	ENSP00000399413.1:p.Val72Ala
ENST00000458283.5:c.282T>C
NM_000282.3:c.2066T>C	NP_000273.2:p.Val689Ala
NM_001127692.2:c.1988T>C	NP_001121164.1:p.Val663Ala
NM_001178004.1:c.1925T>C	NP_001171475.1:p.Val642Ala
XR_931615.1:n.1923T>C
NM_001352605.1:c.2012T>C	NP_001339534.1:p.Val671Ala
NM_001352606.1:c.1922T>C	NP_001339535.1:p.Val641Ala
NM_001352607.1:c.1847T>C	NP_001339536.1:p.Val616Ala
NM_001352608.1:c.1844T>C	NP_001339537.1:p.Val615Ala
NM_001352610.1:c.1121T>C	NP_001339539.1:p.Val374Ala
NM_001352611.1:c.1067T>C	NP_001339540.1:p.Val356Ala
NM_001352612.1:c.977T>C	NP_001339541.1:p.Val326Ala
NR_148027.1:n.2115T>C
NR_148028.1:n.2153T>C
NR_148029.1:n.2075T>C
NR_148030.1:n.2256T>C
NR_148031.1:n.2069T>C
XM_017020609.1:c.1967T>C	XP_016876098.1:p.Val656Ala
XM_017020613.1:c.2004T>C	XP_016876102.1:p.Cys668=
XR_001749567.1:n.2246T>C
XR_001749568.1:n.2333T>C
XR_001749569.1:n.2192T>C
XR_001749574.1:n.2102T>C
XR_001749576.1:n.1803T>C
XR_001749577.1:n.1700T>C
NM_000282.4:c.2066T>C MANE Select	NP_000273.2:p.Val689Ala
NM_001352605.2:c.2012T>C	NP_001339534.1:p.Val671Ala
NM_001352606.2:c.1922T>C	NP_001339535.1:p.Val641Ala
NM_001352607.2:c.1847T>C	NP_001339536.1:p.Val616Ala
NM_001352608.2:c.1844T>C	NP_001339537.1:p.Val615Ala
NM_001352610.2:c.1121T>C	NP_001339539.1:p.Val374Ala
NM_001352611.2:c.1067T>C	NP_001339540.1:p.Val356Ala
NM_001352612.2:c.977T>C	NP_001339541.1:p.Val326Ala
NR_148027.2:n.2037T>C
NR_148028.2:n.2075T>C
NR_148029.2:n.1997T>C
NR_148030.2:n.2178T>C
NR_148031.2:n.1991T>C
NM_001127692.3:c.1988T>C	NP_001121164.1:p.Val663Ala
NM_001178004.2:c.1925T>C	NP_001171475.1:p.Val642Ala