Allele Registry

WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.

ClinGen Allele Registry

Canonical Allele Identifier: CA012495

Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 36039

ClinVar RCV Id: RCV002399339

dbSNP Id: rs193922183

MyVariant Identifiers: chr15:g.48802245A>T (hg19) chr15:g.48510048A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48510048A>T , CM000677.2:g.48510048A>T	GRCh38
NC_000015.9:g.48802245A>T , CM000677.1:g.48802245A>T	GRCh37
NC_000015.8:g.46589537A>T	NCBI36
NG_008805.2:g.140741T>A , LRG_778:g.140741T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.1710T>A	ENSP00000453958.2:p.Cys570Ter
ENST00000674301.2:c.1710T>A	ENSP00000501333.2:p.Cys570Ter
ENST00000684448.1:n.384T>A
ENST00000316623.10:c.1710T>A MANE Select	ENSP00000325527.5:p.Cys570Ter
ENST00000316623.9:c.1710T>A	ENSP00000325527.5:p.Cys570Ter
ENST00000537463.6:c.636+27663T>A	ENSP00000440294.2:n.636+27663T>A
NM_000138.4:c.1710T>A , LRG_778t1:c.1710T>A	NP_000129.3:p.Cys570Ter
NM_000138.5:c.1710T>A MANE Select	NP_000129.3:p.Cys570Ter