Canonical Allele Identifier: CA118619

Gene: SERPINI1

Linked Data

• ClinVar Variation Id: 7089
• ClinVar RCV Id: RCV000007505 ; RCV001813962
• dbSNP Id: rs121909053
• MyVariant Identifiers: chr3:g.167543053G>A (hg19) ; chr3:g.167825265G>A (hg38)
• PubMed: PMID:12103288

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.167825265G>A , CM000665.2:g.167825265G>A	GRCh38
NC_000003.11:g.167543053G>A , CM000665.1:g.167543053G>A	GRCh37
NC_000003.10:g.169025747G>A	NCBI36
NG_008217.1:g.94622G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000446050.7:c.1175G>A MANE Select	ENSP00000397373.2:p.Gly392Glu
ENST00000295777.9:c.1175G>A	ENSP00000295777.5:p.Gly392Glu
ENST00000446050.6:c.1175G>A	ENSP00000397373.2:p.Gly392Glu
ENST00000466865.1:c.300G>A
ENST00000488374.5:n.371G>A
ENST00000494666.1:n.246G>A
NM_001122752.1:c.1175G>A	NP_001116224.1:p.Gly392Glu
NM_005025.4:c.1175G>A	NP_005016.1:p.Gly392Glu
XM_017006618.2:c.1175G>A	XP_016862107.1:p.Gly392Glu
NM_001122752.2:c.1175G>A MANE Select	NP_001116224.1:p.Gly392Glu
NM_005025.5:c.1175G>A	NP_005016.1:p.Gly392Glu