Canonical Allele Identifier: CA355155346

Gene: SERPINI1

Linked Data

• ClinVar Variation Id: 2037121
• ClinVar RCV Id: RCV002885516
• MyVariant Identifiers: chr3:g.167506921C>T (hg19) ; chr3:g.167789133C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.167789133C>T , CM000665.2:g.167789133C>T	GRCh38
NC_000003.11:g.167506921C>T , CM000665.1:g.167506921C>T	GRCh37
NC_000003.10:g.168989615C>T	NCBI36
NG_008217.1:g.58490C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000446050.7:c.5C>T MANE Select	ENSP00000397373.2:p.Ala2Val
ENST00000295777.9:c.5C>T	ENSP00000295777.5:p.Ala2Val
ENST00000446050.6:c.5C>T	ENSP00000397373.2:p.Ala2Val
ENST00000472747.2:c.5C>T	ENSP00000420561.2:p.Ala2Val
ENST00000472941.5:c.5C>T	ENSP00000420133.1:p.Ala2Val
NM_001122752.1:c.5C>T	NP_001116224.1:p.Ala2Val
NM_005025.4:c.5C>T	NP_005016.1:p.Ala2Val
XM_017006618.2:c.5C>T	XP_016862107.1:p.Ala2Val
NM_001122752.2:c.5C>T MANE Select	NP_001116224.1:p.Ala2Val
NM_005025.5:c.5C>T	NP_005016.1:p.Ala2Val