Canonical Allele Identifier: CA2175493870

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48432843T= , CM000677.2:g.48432843T=	GRCh38
NC_000015.9:g.48725040T= , CM000677.1:g.48725040T=	GRCh37
NC_000015.8:g.46512332T=	NCBI36
NG_008805.2:g.217946A= , LRG_778:g.217946A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6739+23A=	ENSP00000453958.2:n.6739+23A=
ENST00000674301.2:c.*190+23A=	ENSP00000501333.2:n.*190+23A=
ENST00000682170.1:n.348+23A=
ENST00000316623.10:c.6739+23A= MANE Select	ENSP00000325527.5:n.6739+23A=
ENST00000674301.1:c.1843+23A=	ENSP00000501333.1:n.1843+23A=
ENST00000316623.9:c.6739+23A=	ENSP00000325527.5:n.6739+23A=
ENST00000537463.6:c.*2502+23A=	ENSP00000440294.2:n.*2502+23A=
ENST00000559133.5:c.2046+23A=
ENST00000560720.1:n.26+23A=
NM_000138.4:c.6739+23A= , LRG_778t1:c.6739+23A=	NP_000129.3:n.6739+23A=
NM_000138.5:c.6739+23A= MANE Select	NP_000129.3:n.6739+23A=