Canonical Allele Identifier: CA2175539350

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48537625G= , CM000677.2:g.48537625G=	GRCh38
NC_000015.9:g.48829822G= , CM000677.1:g.48829822G=	GRCh37
NC_000015.8:g.46617114G=	NCBI36
NG_008805.2:g.113164C= , LRG_778:g.113164C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.722C=	ENSP00000453958.2:p.Thr241=
ENST00000674301.2:c.722C=	ENSP00000501333.2:p.Thr241=
ENST00000316623.10:c.722C= MANE Select	ENSP00000325527.5:p.Thr241=
ENST00000316623.9:c.722C=	ENSP00000325527.5:p.Thr241=
ENST00000537463.6:c.636+86C=	ENSP00000440294.2:n.636+86C=
NM_000138.4:c.722C= , LRG_778t1:c.722C=	NP_000129.3:p.Thr241=
NM_000138.5:c.722C= MANE Select	NP_000129.3:p.Thr241=