Canonical Allele Identifier: CA388641064

Gene: PCCA

Linked Data

• MyVariant Identifiers: chr13:g.101182373G>T (hg19) ; chr13:g.100530119G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.100530119G>T , CM000675.2:g.100530119G>T	GRCh38
NC_000013.10:g.101182373G>T , CM000675.1:g.101182373G>T	GRCh37
NC_000013.9:g.99980374G>T	NCBI36
NG_008768.1:g.446037G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376285.6:c.2140G>T MANE Select	ENSP00000365462.1:p.Ala714Ser
ENST00000636366.1:c.1338G>T
ENST00000636475.1:c.1655G>T
ENST00000637657.1:c.1800G>T
ENST00000647303.1:c.*1624G>T	ENSP00000495663.1:n.*1624G>T
ENST00000376279.7:c.1999G>T	ENSP00000365456.3:p.Ala667Ser
ENST00000376285.5:c.2140G>T	ENSP00000365462.1:p.Ala714Ser
ENST00000376286.8:c.2062G>T	ENSP00000365463.4:p.Ala688Ser
ENST00000428969.1:c.289G>T	ENSP00000399413.1:p.Ala97Ser
ENST00000458283.5:c.356G>T
NM_000282.3:c.2140G>T	NP_000273.2:p.Ala714Ser
NM_001127692.2:c.2062G>T	NP_001121164.1:p.Ala688Ser
NM_001178004.1:c.1999G>T	NP_001171475.1:p.Ala667Ser
XR_931615.1:n.1997G>T
NM_001352605.1:c.2086G>T	NP_001339534.1:p.Ala696Ser
NM_001352606.1:c.1996G>T	NP_001339535.1:p.Ala666Ser
NM_001352607.1:c.1921G>T	NP_001339536.1:p.Ala641Ser
NM_001352608.1:c.1918G>T	NP_001339537.1:p.Ala640Ser
NM_001352610.1:c.1195G>T	NP_001339539.1:p.Ala399Ser
NM_001352611.1:c.1141G>T	NP_001339540.1:p.Ala381Ser
NM_001352612.1:c.1051G>T	NP_001339541.1:p.Ala351Ser
NR_148027.1:n.2189G>T
NR_148028.1:n.2227G>T
NR_148029.1:n.2149G>T
NR_148030.1:n.2330G>T
NR_148031.1:n.2143G>T
XM_017020609.1:c.2041G>T	XP_016876098.1:p.Ala681Ser
XM_017020613.1:c.*68G>T	XP_016876102.1:n.*68G>T
XR_001749567.1:n.2320G>T
XR_001749568.1:n.2407G>T
XR_001749569.1:n.2266G>T
XR_001749576.1:n.1877G>T
XR_001749577.1:n.1774G>T
NM_000282.4:c.2140G>T MANE Select	NP_000273.2:p.Ala714Ser
NM_001352605.2:c.2086G>T	NP_001339534.1:p.Ala696Ser
NM_001352606.2:c.1996G>T	NP_001339535.1:p.Ala666Ser
NM_001352607.2:c.1921G>T	NP_001339536.1:p.Ala641Ser
NM_001352608.2:c.1918G>T	NP_001339537.1:p.Ala640Ser
NM_001352610.2:c.1195G>T	NP_001339539.1:p.Ala399Ser
NM_001352611.2:c.1141G>T	NP_001339540.1:p.Ala381Ser
NM_001352612.2:c.1051G>T	NP_001339541.1:p.Ala351Ser
NR_148027.2:n.2111G>T
NR_148028.2:n.2149G>T
NR_148029.2:n.2071G>T
NR_148030.2:n.2252G>T
NR_148031.2:n.2065G>T
NM_001127692.3:c.2062G>T	NP_001121164.1:p.Ala688Ser
NM_001178004.2:c.1999G>T	NP_001171475.1:p.Ala667Ser