Canonical Allele Identifier: CA410768959

Gene: SERPIND1 PI4KA

Linked Data

• dbSNP Id: rs1933569552
• gnomAD v4: 22-20779443-A-G
• MyVariant Identifiers: chr22:g.21133731A>G (hg19) ; chr22:g.20779443A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.20779443A>G , CM000684.2:g.20779443A>G	GRCh38
NC_000022.10:g.21133731A>G , CM000684.1:g.21133731A>G	GRCh37
NC_000022.9:g.19463731A>G	NCBI36
NG_012076.1:g.10349A>G
NG_033052.1:g.84370T>C
NG_012076.2:g.10349A>G
NG_033052.2:g.84370T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215727.10:c.131A>G (SERPIND1) MANE Select	ENSP00000215727.5:p.Gln44Arg
ENST00000255882.11:c.2329-13750T>C (PI4KA) MANE Select	ENSP00000255882.6:n.2329-13750T>C
ENST00000215727.9:c.131A>G (SERPIND1)	ENSP00000215727.5:p.Gln44Arg
ENST00000255882.10:c.2329-13750T>C (PI4KA)	ENSP00000255882.6:n.2329-13750T>C
ENST00000406799.1:c.131A>G (SERPIND1)	ENSP00000384050.1:p.Gln44Arg
ENST00000466162.5:n.92-13750T>C (PI4KA)
ENST00000484220.1:n.65-13750T>C (PI4KA)
NM_000185.3:c.131A>G (SERPIND1)	NP_000176.2:p.Gln44Arg
NM_058004.3:c.2329-13750T>C (PI4KA)	NP_477352.3:n.2329-13750T>C
XM_005261634.1:c.2413-13750T>C (PI4KA)	XP_005261691.1:n.2413-13750T>C
XM_005261635.1:c.2413-13750T>C (PI4KA)	XP_005261692.1:n.2413-13750T>C
XM_011530226.1:c.2413-13750T>C (PI4KA)	XP_011528528.1:n.2413-13750T>C
XM_011530227.1:c.2413-13750T>C (PI4KA)	XP_011528529.1:n.2413-13750T>C
XM_011530228.1:c.2413-13750T>C (PI4KA)	XP_011528530.1:n.2413-13750T>C
XR_937868.1:n.2416-13750T>C (PI4KA)
NM_001362862.1:c.2329-13750T>C (PI4KA)	NP_001349791.1:n.2329-13750T>C
NM_001362863.1:c.2263-13750T>C (PI4KA)	NP_001349792.1:n.2263-13750T>C
XM_011530228.2:c.2413-13750T>C (PI4KA)	XP_011528530.1:n.2413-13750T>C
XM_017028830.1:c.430-13750T>C (PI4KA)	XP_016884319.1:n.430-13750T>C
XR_001755251.1:n.2416-13750T>C (PI4KA)
NM_000185.4:c.131A>G (SERPIND1) MANE Select	NP_000176.2:p.Gln44Arg
NM_058004.4:c.2329-13750T>C (PI4KA) MANE Select	NP_477352.3:n.2329-13750T>C
NM_001362862.2:c.2329-13750T>C (PI4KA)	NP_001349791.1:n.2329-13750T>C
NM_001362863.2:c.2263-13750T>C (PI4KA)	NP_001349792.1:n.2263-13750T>C