Canonical Allele Identifier: CA2175496868

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48434594C= , CM000677.2:g.48434594C=	GRCh38
NC_000015.9:g.48726791C= , CM000677.1:g.48726791C=	GRCh37
NC_000015.8:g.46514083C=	NCBI36
NG_008805.2:g.216195G= , LRG_778:g.216195G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6616G=	ENSP00000453958.2:p.Asp2206=
ENST00000674301.2:c.6616G=	ENSP00000501333.2:p.Gly2206=
ENST00000682170.1:n.225G=
ENST00000316623.10:c.6616G= MANE Select	ENSP00000325527.5:p.Asp2206=
ENST00000674301.1:c.1615G=	ENSP00000501333.1:p.Gly539=
ENST00000316623.9:c.6616G=	ENSP00000325527.5:p.Asp2206=
ENST00000537463.6:c.*2379G=	ENSP00000440294.2:n.*2379G=
ENST00000559133.5:c.1923G=
NM_000138.4:c.6616G= , LRG_778t1:c.6616G=	NP_000129.3:p.Asp2206=
NM_000138.5:c.6616G= MANE Select	NP_000129.3:p.Asp2206=