Canonical Allele Identifier: CA124490
Gene: SERPIND1 HGNC NCBI
PI4KA HGNC NCBI

Linked Data

ClinVar Variation Id: 14952
ClinVar RCV Id: RCV000016092
dbSNP Id: rs5907

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.20779935G>A , CM000684.2:g.20779935G>A GRCh38
NC_000022.10:g.21134223G>A , CM000684.1:g.21134223G>A GRCh37
NC_000022.9:g.19464223G>A NCBI36
NG_012076.1:g.10841G>A
NG_033052.1:g.83878C>T
NG_012076.2:g.10841G>A
NG_033052.2:g.83878C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000215727.10:c.623G>A (SERPIND1) MANE Select ENSP00000215727.5:p.Arg208His
ENST00000255882.11:c.2328+13258C>T (PI4KA) MANE Select ENSP00000255882.6:n.2328+13258C>T
ENST00000215727.9:c.623G>A (SERPIND1) ENSP00000215727.5:p.Arg208His
ENST00000255882.10:c.2328+13258C>T (PI4KA) ENSP00000255882.6:n.2328+13258C>T
ENST00000406799.1:c.623G>A (SERPIND1) ENSP00000384050.1:p.Arg208His
ENST00000466162.5:n.91+13258C>T (PI4KA)
ENST00000484220.1:n.64+13258C>T (PI4KA)
NM_000185.3:c.623G>A (SERPIND1) NP_000176.2:p.Arg208His
NM_058004.3:c.2328+13258C>T (PI4KA) NP_477352.3:n.2328+13258C>T
XM_005261634.1:c.2412+13258C>T (PI4KA) XP_005261691.1:n.2412+13258C>T
XM_005261635.1:c.2412+13258C>T (PI4KA) XP_005261692.1:n.2412+13258C>T
XM_011530226.1:c.2412+13258C>T (PI4KA) XP_011528528.1:n.2412+13258C>T
XM_011530227.1:c.2412+13258C>T (PI4KA) XP_011528529.1:n.2412+13258C>T
XM_011530228.1:c.2412+13258C>T (PI4KA) XP_011528530.1:n.2412+13258C>T
XR_937868.1:n.2415+13258C>T (PI4KA)
NM_001362862.1:c.2328+13258C>T (PI4KA) NP_001349791.1:n.2328+13258C>T
NM_001362863.1:c.2262+13258C>T (PI4KA) NP_001349792.1:n.2262+13258C>T
XM_011530228.2:c.2412+13258C>T (PI4KA) XP_011528530.1:n.2412+13258C>T
XM_017028830.1:c.429+13258C>T (PI4KA) XP_016884319.1:n.429+13258C>T
XR_001755251.1:n.2415+13258C>T (PI4KA)
NM_000185.4:c.623G>A (SERPIND1) MANE Select NP_000176.2:p.Arg208His
NM_058004.4:c.2328+13258C>T (PI4KA) MANE Select NP_477352.3:n.2328+13258C>T
NM_001362862.2:c.2328+13258C>T (PI4KA) NP_001349791.1:n.2328+13258C>T
NM_001362863.2:c.2262+13258C>T (PI4KA) NP_001349792.1:n.2262+13258C>T