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: CA016122

Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 180357

ClinVar RCV Id: RCV000157231

dbSNP Id: rs730880104

MyVariant Identifiers: chr15:g.48737629A>C (hg19) chr15:g.48445432A>C (hg38)

PubMed: PMID:19839986

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48445432A>C , CM000677.2:g.48445432A>C	GRCh38
NC_000015.9:g.48737629A>C , CM000677.1:g.48737629A>C	GRCh37
NC_000015.8:g.46524921A>C	NCBI36
NG_008805.2:g.205357T>G , LRG_778:g.205357T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.5861T>G	ENSP00000453958.2:p.Phe1954Cys
ENST00000674301.2:c.5861T>G	ENSP00000501333.2:p.Phe1954Cys
ENST00000684448.1:n.4535T>G
ENST00000316623.10:c.5861T>G MANE Select	ENSP00000325527.5:p.Phe1954Cys
ENST00000674301.1:c.860T>G	ENSP00000501333.1:p.Phe287Cys
ENST00000316623.9:c.5861T>G	ENSP00000325527.5:p.Phe1954Cys
ENST00000537463.6:c.*1624T>G	ENSP00000440294.2:n.*1624T>G
ENST00000559133.5:c.1168T>G
NM_000138.4:c.5861T>G , LRG_778t1:c.5861T>G	NP_000129.3:p.Phe1954Cys
NM_000138.5:c.5861T>G MANE Select	NP_000129.3:p.Phe1954Cys