Canonical Allele Identifier: CA392328664

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48425798G>T , CM000677.2:g.48425798G>T	GRCh38
NC_000015.9:g.48717995G>T , CM000677.1:g.48717995G>T	GRCh37
NC_000015.8:g.46505287G>T	NCBI36
NG_008805.2:g.224991C>A , LRG_778:g.224991C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000138.5:c.7271C>A MANE Select	NP_000129.3:p.Ser2424Ter
ENST00000316623.10:c.7271C>A MANE Select	ENSP00000325527.5:p.Ser2424Ter
NM_000138.4:c.7271C>A , LRG_778t1:c.7271C>A	NP_000129.3:p.Ser2424Ter
ENST00000316623.9:c.7271C>A	ENSP00000325527.5:p.Ser2424Ter
ENST00000559133.5:c.2640C>A
ENST00000559133.6:c.*79C>A	ENSP00000453958.2:n.*79C>A
ENST00000674301.1:c.2437C>A	ENSP00000501333.1:n.2437C>A
ENST00000674301.2:c.*784C>A	ENSP00000501333.2:n.*784C>A
ENST00000682170.1:n.1452C>A
ENST00000682767.1:n.568C>A