Canonical Allele Identifier: CA547812148

Gene: SERPINI1

Linked Data

• dbSNP Id: rs1347845180
• gnomAD v2: 3-167540730-T-G
• gnomAD v4: 3-167822942-T-G
• MyVariant Identifiers: chr3:g.167540730T>G (hg19) ; chr3:g.167822942T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.167822942T>G , CM000665.2:g.167822942T>G	GRCh38
NC_000003.11:g.167540730T>G , CM000665.1:g.167540730T>G	GRCh37
NC_000003.10:g.169023424T>G	NCBI36
NG_008217.1:g.92299T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000446050.7:c.980-44T>G MANE Select	ENSP00000397373.2:n.980-44T>G
ENST00000295777.9:c.980-44T>G	ENSP00000295777.5:n.980-44T>G
ENST00000446050.6:c.980-44T>G	ENSP00000397373.2:n.980-44T>G
ENST00000466865.1:c.105-44T>G
ENST00000488374.5:n.176-44T>G
ENST00000494666.1:n.7T>G
NM_001122752.1:c.980-44T>G	NP_001116224.1:n.980-44T>G
NM_005025.4:c.980-44T>G	NP_005016.1:n.980-44T>G
XM_017006618.2:c.980-44T>G	XP_016862107.1:n.980-44T>G
NM_001122752.2:c.980-44T>G MANE Select	NP_001116224.1:n.980-44T>G
NM_005025.5:c.980-44T>G	NP_005016.1:n.980-44T>G