Canonical Allele Identifier: CA392319823

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48703509G>A (hg19) ; chr15:g.48411312G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411312G>A , CM000677.2:g.48411312G>A	GRCh38
NC_000015.9:g.48703509G>A , CM000677.1:g.48703509G>A	GRCh37
NC_000015.8:g.46490801G>A	NCBI36
NG_008805.2:g.239477C>T , LRG_778:g.239477C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1102C>T	ENSP00000453958.2:n.*1102C>T
ENST00000674301.2:c.*1807C>T	ENSP00000501333.2:n.*1807C>T
ENST00000682158.1:n.1675C>T
ENST00000682170.1:n.2475C>T
ENST00000682767.1:n.1591C>T
ENST00000316623.10:c.8294C>T MANE Select	ENSP00000325527.5:p.Ala2765Val
ENST00000674301.1:c.3460C>T	ENSP00000501333.1:n.3460C>T
ENST00000316623.9:c.8294C>T	ENSP00000325527.5:p.Ala2765Val
ENST00000559133.5:c.3663C>T
ENST00000561429.1:n.549C>T
NM_000138.4:c.8294C>T , LRG_778t1:c.8294C>T	NP_000129.3:p.Ala2765Val
NM_000138.5:c.8294C>T MANE Select	NP_000129.3:p.Ala2765Val