Canonical Allele Identifier: CA2175509261

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48456616T= , CM000677.2:g.48456616T=	GRCh38
NC_000015.9:g.48748813T= , CM000677.1:g.48748813T=	GRCh37
NC_000015.8:g.46536105T=	NCBI36
NG_008805.2:g.194173A= , LRG_778:g.194173A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5422+21A=	ENSP00000453958.2:n.5422+21A=
ENST00000674301.2:c.5422+21A=	ENSP00000501333.2:n.5422+21A=
ENST00000684448.1:n.4096+21A=
ENST00000316623.10:c.5422+21A= MANE Select	ENSP00000325527.5:n.5422+21A=
ENST00000674301.1:c.421+21A=	ENSP00000501333.1:n.421+21A=
ENST00000316623.9:c.5422+21A=	ENSP00000325527.5:n.5422+21A=
ENST00000537463.6:c.*1185+21A=	ENSP00000440294.2:n.*1185+21A=
ENST00000559133.5:c.729+21A=
NM_000138.4:c.5422+21A= , LRG_778t1:c.5422+21A=	NP_000129.3:n.5422+21A=
NM_000138.5:c.5422+21A= MANE Select	NP_000129.3:n.5422+21A=