Canonical Allele Identifier: CA392319862

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48703512A>G (hg19) ; chr15:g.48411315A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411315A>G , CM000677.2:g.48411315A>G	GRCh38
NC_000015.9:g.48703512A>G , CM000677.1:g.48703512A>G	GRCh37
NC_000015.8:g.46490804A>G	NCBI36
NG_008805.2:g.239474T>C , LRG_778:g.239474T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1099T>C	ENSP00000453958.2:n.*1099T>C
ENST00000674301.2:c.*1804T>C	ENSP00000501333.2:n.*1804T>C
ENST00000682158.1:n.1672T>C
ENST00000682170.1:n.2472T>C
ENST00000682767.1:n.1588T>C
ENST00000316623.10:c.8291T>C MANE Select	ENSP00000325527.5:p.Phe2764Ser
ENST00000674301.1:c.3457T>C	ENSP00000501333.1:n.3457T>C
ENST00000316623.9:c.8291T>C	ENSP00000325527.5:p.Phe2764Ser
ENST00000559133.5:c.3660T>C
ENST00000561429.1:n.546T>C
NM_000138.4:c.8291T>C , LRG_778t1:c.8291T>C	NP_000129.3:p.Phe2764Ser
NM_000138.5:c.8291T>C MANE Select	NP_000129.3:p.Phe2764Ser