Canonical Allele Identifier: CA355155751

Gene: SERPINI1

Linked Data

• ClinVar Variation Id: 648312
• ClinVar RCV Id: RCV000803017
• dbSNP Id: rs1577418542
• MyVariant Identifiers: chr3:g.167507116C>A (hg19) ; chr3:g.167789328C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.167789328C>A , CM000665.2:g.167789328C>A	GRCh38
NC_000003.11:g.167507116C>A , CM000665.1:g.167507116C>A	GRCh37
NC_000003.10:g.168989810C>A	NCBI36
NG_008217.1:g.58685C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000446050.7:c.200C>A MANE Select	ENSP00000397373.2:p.Ser67Tyr
ENST00000295777.9:c.200C>A	ENSP00000295777.5:p.Ser67Tyr
ENST00000446050.6:c.200C>A	ENSP00000397373.2:p.Ser67Tyr
ENST00000472747.2:c.200C>A	ENSP00000420561.2:p.Ser67Tyr
ENST00000472941.5:c.200C>A	ENSP00000420133.1:p.Ser67Tyr
NM_001122752.1:c.200C>A	NP_001116224.1:p.Ser67Tyr
NM_005025.4:c.200C>A	NP_005016.1:p.Ser67Tyr
XM_017006618.2:c.200C>A	XP_016862107.1:p.Ser67Tyr
NM_001122752.2:c.200C>A MANE Select	NP_001116224.1:p.Ser67Tyr
NM_005025.5:c.200C>A	NP_005016.1:p.Ser67Tyr