Canonical Allele Identifier: CA392319559

Gene: FBN1

Linked Data

• ClinVar Variation Id: 527186
• ClinVar RCV Id: RCV000631973
• dbSNP Id: rs1555393553
• MyVariant Identifiers: chr15:g.48703470A>C (hg19) ; chr15:g.48411273A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411273A>C , CM000677.2:g.48411273A>C	GRCh38
NC_000015.9:g.48703470A>C , CM000677.1:g.48703470A>C	GRCh37
NC_000015.8:g.46490762A>C	NCBI36
NG_008805.2:g.239516T>G , LRG_778:g.239516T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1141T>G	ENSP00000453958.2:n.*1141T>G
ENST00000674301.2:c.*1846T>G	ENSP00000501333.2:n.*1846T>G
ENST00000682158.1:n.1714T>G
ENST00000682170.1:n.2514T>G
ENST00000682767.1:n.1630T>G
ENST00000316623.10:c.8333T>G MANE Select	ENSP00000325527.5:p.Leu2778Arg
ENST00000674301.1:c.3499T>G	ENSP00000501333.1:n.3499T>G
ENST00000316623.9:c.8333T>G	ENSP00000325527.5:p.Leu2778Arg
ENST00000559133.5:c.3702T>G
ENST00000561429.1:n.588T>G
NM_000138.4:c.8333T>G , LRG_778t1:c.8333T>G	NP_000129.3:p.Leu2778Arg
NM_000138.5:c.8333T>G MANE Select	NP_000129.3:p.Leu2778Arg