Canonical Allele Identifier: CA10615275

Gene: SERPINI1

Linked Data

• ClinVar Variation Id: 344115
• ClinVar RCV Id: RCV000331710
• dbSNP Id: rs886058167
• MyVariant Identifiers: chr3:g.167453659C>T (hg19) ; chr3:g.167735871C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.167735871C>T , CM000665.2:g.167735871C>T	GRCh38
NC_000003.11:g.167453659C>T , CM000665.1:g.167453659C>T	GRCh37
NC_000003.10:g.168936353C>T	NCBI36
NG_008158.1:g.3993G>A
NG_008217.1:g.5228C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000446050.7:c.-19+48C>T MANE Select	ENSP00000397373.2:n.-19+48C>T
ENST00000295777.9:c.-283C>T	ENSP00000295777.5:n.-283C>T
ENST00000446050.6:c.-19+48C>T	ENSP00000397373.2:n.-19+48C>T
ENST00000472747.2:c.-19+59C>T	ENSP00000420561.2:n.-19+59C>T
ENST00000472941.5:c.-19+546C>T	ENSP00000420133.1:n.-19+546C>T
NM_001122752.1:c.-19+48C>T	NP_001116224.1:n.-19+48C>T
NM_005025.4:c.-283C>T	NP_005016.1:n.-283C>T
XM_017006618.2:c.-19+59C>T	XP_016862107.1:n.-19+59C>T
NM_001122752.2:c.-19+48C>T MANE Select	NP_001116224.1:n.-19+48C>T
NM_005025.5:c.-283C>T	NP_005016.1:n.-283C>T