Canonical Allele Identifier: CA388641121

Gene: PCCA

Linked Data

• gnomAD v4: 13-100530147-T-C
• MyVariant Identifiers: chr13:g.101182401T>C (hg19) ; chr13:g.100530147T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.100530147T>C , CM000675.2:g.100530147T>C	GRCh38
NC_000013.10:g.101182401T>C , CM000675.1:g.101182401T>C	GRCh37
NC_000013.9:g.99980402T>C	NCBI36
NG_008768.1:g.446065T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376285.6:c.2168T>C MANE Select	ENSP00000365462.1:p.Leu723Pro
ENST00000636366.1:c.1366T>C
ENST00000636475.1:c.1683T>C
ENST00000637657.1:c.1828T>C
ENST00000647303.1:c.*1652T>C	ENSP00000495663.1:n.*1652T>C
ENST00000376279.7:c.2027T>C	ENSP00000365456.3:p.Leu676Pro
ENST00000376285.5:c.2168T>C	ENSP00000365462.1:p.Leu723Pro
ENST00000376286.8:c.2090T>C	ENSP00000365463.4:p.Leu697Pro
ENST00000428969.1:c.317T>C	ENSP00000399413.1:p.Leu106Pro
ENST00000458283.5:c.384T>C
NM_000282.3:c.2168T>C	NP_000273.2:p.Leu723Pro
NM_001127692.2:c.2090T>C	NP_001121164.1:p.Leu697Pro
NM_001178004.1:c.2027T>C	NP_001171475.1:p.Leu676Pro
XR_931615.1:n.2025T>C
NM_001352605.1:c.2114T>C	NP_001339534.1:p.Leu705Pro
NM_001352606.1:c.2024T>C	NP_001339535.1:p.Leu675Pro
NM_001352607.1:c.1949T>C	NP_001339536.1:p.Leu650Pro
NM_001352608.1:c.1946T>C	NP_001339537.1:p.Leu649Pro
NM_001352610.1:c.1223T>C	NP_001339539.1:p.Leu408Pro
NM_001352611.1:c.1169T>C	NP_001339540.1:p.Leu390Pro
NM_001352612.1:c.1079T>C	NP_001339541.1:p.Leu360Pro
NR_148027.1:n.2217T>C
NR_148028.1:n.2255T>C
NR_148029.1:n.2177T>C
NR_148030.1:n.2358T>C
NR_148031.1:n.2171T>C
XM_017020609.1:c.2069T>C	XP_016876098.1:p.Leu690Pro
XM_017020613.1:c.*96T>C	XP_016876102.1:n.*96T>C
XR_001749567.1:n.2348T>C
XR_001749568.1:n.2435T>C
XR_001749569.1:n.2294T>C
XR_001749576.1:n.1905T>C
XR_001749577.1:n.1802T>C
NM_000282.4:c.2168T>C MANE Select	NP_000273.2:p.Leu723Pro
NM_001352605.2:c.2114T>C	NP_001339534.1:p.Leu705Pro
NM_001352606.2:c.2024T>C	NP_001339535.1:p.Leu675Pro
NM_001352607.2:c.1949T>C	NP_001339536.1:p.Leu650Pro
NM_001352608.2:c.1946T>C	NP_001339537.1:p.Leu649Pro
NM_001352610.2:c.1223T>C	NP_001339539.1:p.Leu408Pro
NM_001352611.2:c.1169T>C	NP_001339540.1:p.Leu390Pro
NM_001352612.2:c.1079T>C	NP_001339541.1:p.Leu360Pro
NR_148027.2:n.2139T>C
NR_148028.2:n.2177T>C
NR_148029.2:n.2099T>C
NR_148030.2:n.2280T>C
NR_148031.2:n.2093T>C
NM_001127692.3:c.2090T>C	NP_001121164.1:p.Leu697Pro
NM_001178004.2:c.2027T>C	NP_001171475.1:p.Leu676Pro