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: CA353628

Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 222611

ClinVar RCV Id: RCV000208020

dbSNP Id: rs869025413

MyVariant Identifiers: chr15:g.48722874A>G (hg19) chr15:g.48430677A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48430677A>G , CM000677.2:g.48430677A>G	GRCh38
NC_000015.9:g.48722874A>G , CM000677.1:g.48722874A>G	GRCh37
NC_000015.8:g.46510166A>G	NCBI36
NG_008805.2:g.220112T>C , LRG_778:g.220112T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.6865T>C	ENSP00000453958.2:p.Cys2289Arg
ENST00000674301.2:c.*316T>C	ENSP00000501333.2:n.*316T>C
ENST00000682170.1:n.474T>C
ENST00000316623.10:c.6865T>C MANE Select	ENSP00000325527.5:p.Cys2289Arg
ENST00000674301.1:c.1969T>C	ENSP00000501333.1:n.1969T>C
ENST00000316623.9:c.6865T>C	ENSP00000325527.5:p.Cys2289Arg
ENST00000559133.5:c.2172T>C
ENST00000560720.1:n.152T>C
NM_000138.4:c.6865T>C , LRG_778t1:c.6865T>C	NP_000129.3:p.Cys2289Arg
NM_000138.5:c.6865T>C MANE Select	NP_000129.3:p.Cys2289Arg