Canonical Allele Identifier: CA118615
Gene: SERPINI1 HGNC NCBI

Linked Data

ClinVar Variation Id: 7086
ClinVar RCV Id: RCV000007502
dbSNP Id: rs121909051
MyVariant Identifiers: chr3:g.167507061T>C (hg19) chr3:g.167789273T>C (hg38)
PubMed: PMID:11880376 PMID:15090543
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.167789273T>C , CM000665.2:g.167789273T>C GRCh38
NC_000003.11:g.167507061T>C , CM000665.1:g.167507061T>C GRCh37
NC_000003.10:g.168989755T>C NCBI36
NG_008217.1:g.58630T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000446050.7:c.145T>C MANE Select ENSP00000397373.2:p.Ser49Pro
ENST00000295777.9:c.145T>C ENSP00000295777.5:p.Ser49Pro
ENST00000446050.6:c.145T>C ENSP00000397373.2:p.Ser49Pro
ENST00000472747.2:c.145T>C ENSP00000420561.2:p.Ser49Pro
ENST00000472941.5:c.145T>C ENSP00000420133.1:p.Ser49Pro
NM_001122752.1:c.145T>C NP_001116224.1:p.Ser49Pro
NM_005025.4:c.145T>C NP_005016.1:p.Ser49Pro
XM_017006618.2:c.145T>C XP_016862107.1:p.Ser49Pro
NM_001122752.2:c.145T>C MANE Select NP_001116224.1:p.Ser49Pro
NM_005025.5:c.145T>C NP_005016.1:p.Ser49Pro
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