Canonical Allele Identifier: CA015621

Gene: FBN1

Linked Data

• ClinVar Variation Id: 29696
• ClinVar RCV Id: RCV000022544 ; RCV000022543 ; RCV002513168
• dbSNP Id: rs387906622
• MyVariant Identifiers: chr15:g.48755407T>C (hg19) ; chr15:g.48463210T>C (hg38)
• PubMed: PMID:1852206

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48463210T>C , CM000677.2:g.48463210T>C	GRCh38
NC_000015.9:g.48755407T>C , CM000677.1:g.48755407T>C	GRCh37
NC_000015.8:g.46542699T>C	NCBI36
NG_008805.2:g.187579A>G , LRG_778:g.187579A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5096A>G	ENSP00000453958.2:p.Tyr1699Cys
ENST00000674301.2:c.5096A>G	ENSP00000501333.2:p.Tyr1699Cys
ENST00000684448.1:n.3770A>G
ENST00000316623.10:c.5096A>G MANE Select	ENSP00000325527.5:p.Tyr1699Cys
ENST00000674301.1:c.95A>G	ENSP00000501333.1:p.Tyr32Cys
ENST00000316623.9:c.5096A>G	ENSP00000325527.5:p.Tyr1699Cys
ENST00000537463.6:c.*859A>G	ENSP00000440294.2:n.*859A>G
ENST00000559133.5:c.403A>G
NM_000138.4:c.5096A>G , LRG_778t1:c.5096A>G	NP_000129.3:p.Tyr1699Cys
NM_000138.5:c.5096A>G MANE Select	NP_000129.3:p.Tyr1699Cys