Allele Registry

Canonical Allele Identifier: CA7472143

Gene: THBS1 HGNC NCBI
FSIP1 HGNC NCBI

Linked Data - Expert Curation

COSMIC:

COSM433760 (not active)

Linked Data - Predicted Effect Evidence

MyVariant.info:

GRCh38 chr15:g.39589977A>G

GRCh37 chr15:g.39882178A>G

Revel Score:

ENST00000260356 (MANE Select) 0.565

Linked Data - Sequence & Population

gnomAD v2:

15:39882178 A / G

gnomAD v3:

15:39589977 A / G

gnomAD v4:

chr15-39589977-A-G

Joint Max Group AF 0.12096384 (NFE)

Genomes Max Group AF 0.11746432 (NFE)

Exomes Max Group AF 0.12106061 (NFE)

Linked Data - NCBI & NCI

dbSNP:

2228262

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.39589977A>G , CM000677.2:g.39589977A>G	GRCh38
NC_000015.9:g.39882178A>G , CM000677.1:g.39882178A>G	GRCh37
NC_000015.8:g.37669470A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260356.6:c.2099A>G (THBS1) MANE Select	ENSP00000260356.5:p.Asn700Ser
ENST00000642527.1:c.771-1403T>C (FSIP1)
ENST00000260356.5:c.2099A>G (THBS1)	ENSP00000260356.5:p.Asn700Ser
NM_003246.2:c.2099A>G (THBS1)	NP_003237.2:p.Asn700Ser
NM_003246.3:c.2099A>G (THBS1)	NP_003237.2:p.Asn700Ser
XM_011521970.1:c.2099A>G (THBS1)	XP_011520272.1:p.Asn700Ser
XM_011521971.1:c.1925A>G (THBS1)	XP_011520273.1:p.Asn642Ser
XR_931897.1:n.2274A>G (THBS1)
XM_011521971.2:c.1925A>G (THBS1)	XP_011520273.1:p.Asn642Ser
NM_003246.4:c.2099A>G (THBS1) MANE Select	NP_003237.2:p.Asn700Ser

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