Canonical Allele Identifier: CA392322603

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48707763C>A (hg19) ; chr15:g.48415566C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48415566C>A , CM000677.2:g.48415566C>A	GRCh38
NC_000015.9:g.48707763C>A , CM000677.1:g.48707763C>A	GRCh37
NC_000015.8:g.46495055C>A	NCBI36
NG_008805.2:g.235223G>T , LRG_778:g.235223G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*829G>T	ENSP00000453958.2:n.*829G>T
ENST00000674301.2:c.*1534G>T	ENSP00000501333.2:n.*1534G>T
ENST00000682158.1:n.1402G>T
ENST00000682170.1:n.2202G>T
ENST00000682767.1:n.1318G>T
ENST00000316623.10:c.8021G>T MANE Select	ENSP00000325527.5:p.Cys2674Phe
ENST00000674301.1:c.3187G>T	ENSP00000501333.1:n.3187G>T
ENST00000316623.9:c.8021G>T	ENSP00000325527.5:p.Cys2674Phe
ENST00000559133.5:c.3390G>T
ENST00000561429.1:n.276G>T
NM_000138.4:c.8021G>T , LRG_778t1:c.8021G>T	NP_000129.3:p.Cys2674Phe
NM_000138.5:c.8021G>T MANE Select	NP_000129.3:p.Cys2674Phe