Canonical Allele Identifier: CA2175509591

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48483885G= , CM000677.2:g.48483885G=	GRCh38
NC_000015.9:g.48776082G= , CM000677.1:g.48776082G=	GRCh37
NC_000015.8:g.46563374G=	NCBI36
NG_008805.2:g.166904C= , LRG_778:g.166904C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.3771C=	ENSP00000453958.2:p.Ile1257=
ENST00000674301.2:c.3771C=	ENSP00000501333.2:p.Ile1257=
ENST00000684448.1:n.2445C=
ENST00000316623.10:c.3771C= MANE Select	ENSP00000325527.5:p.Ile1257=
ENST00000316623.9:c.3771C=	ENSP00000325527.5:p.Ile1257=
ENST00000537463.6:c.637-9235C=	ENSP00000440294.2:n.637-9235C=
NM_000138.4:c.3771C= , LRG_778t1:c.3771C=	NP_000129.3:p.Ile1257=
NM_000138.5:c.3771C= MANE Select	NP_000129.3:p.Ile1257=