Canonical Allele Identifier: CA392324999

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48421579G>A , CM000677.2:g.48421579G>A	GRCh38
NC_000015.9:g.48713776G>A , CM000677.1:g.48713776G>A	GRCh37
NC_000015.8:g.46501068G>A	NCBI36
NG_008805.2:g.229210C>T , LRG_778:g.229210C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000138.5:c.7678C>T MANE Select	NP_000129.3:p.Gln2560Ter
ENST00000316623.10:c.7678C>T MANE Select	ENSP00000325527.5:p.Gln2560Ter
NM_000138.4:c.7678C>T , LRG_778t1:c.7678C>T	NP_000129.3:p.Gln2560Ter
ENST00000316623.9:c.7678C>T	ENSP00000325527.5:p.Gln2560Ter
ENST00000559133.5:c.3047C>T
ENST00000559133.6:c.*486C>T	ENSP00000453958.2:n.*486C>T
ENST00000674301.1:c.2844C>T	ENSP00000501333.1:n.2844C>T
ENST00000674301.2:c.*1191C>T	ENSP00000501333.2:n.*1191C>T
ENST00000682170.1:n.1859C>T
ENST00000682767.1:n.975C>T