Canonical Allele Identifier: CA015638

Gene: FBN1

Linked Data

• ClinVar Variation Id: 29701
• ClinVar RCV Id: RCV000022550 ; RCV000494669 ; RCV001851997
• dbSNP Id: rs387906626
• MyVariant Identifiers: chr15:g.48755404T>C (hg19) ; chr15:g.48463207T>C (hg38)
• PubMed: PMID:1852206 ; PMID:25979247

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48463207T>C , CM000677.2:g.48463207T>C	GRCh38
NC_000015.9:g.48755404T>C , CM000677.1:g.48755404T>C	GRCh37
NC_000015.8:g.46542696T>C	NCBI36
NG_008805.2:g.187582A>G , LRG_778:g.187582A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5099A>G	ENSP00000453958.2:p.Tyr1700Cys
ENST00000674301.2:c.5099A>G	ENSP00000501333.2:p.Tyr1700Cys
ENST00000684448.1:n.3773A>G
ENST00000316623.10:c.5099A>G MANE Select	ENSP00000325527.5:p.Tyr1700Cys
ENST00000674301.1:c.98A>G	ENSP00000501333.1:p.Tyr33Cys
ENST00000316623.9:c.5099A>G	ENSP00000325527.5:p.Tyr1700Cys
ENST00000537463.6:c.*862A>G	ENSP00000440294.2:n.*862A>G
ENST00000559133.5:c.406A>G
NM_000138.4:c.5099A>G , LRG_778t1:c.5099A>G	NP_000129.3:p.Tyr1700Cys
NM_000138.5:c.5099A>G MANE Select	NP_000129.3:p.Tyr1700Cys