Canonical Allele Identifier: CA2175531358

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48513507G= , CM000677.2:g.48513507G=	GRCh38
NC_000015.9:g.48805704G= , CM000677.1:g.48805704G=	GRCh37
NC_000015.8:g.46592996G=	NCBI36
NG_008805.2:g.137282C= , LRG_778:g.137282C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.1588+42C=	ENSP00000453958.2:n.1588+42C=
ENST00000674301.2:c.1588+42C=	ENSP00000501333.2:n.1588+42C=
ENST00000684448.1:n.262+42C=
ENST00000316623.10:c.1588+42C= MANE Select	ENSP00000325527.5:n.1588+42C=
ENST00000316623.9:c.1588+42C=	ENSP00000325527.5:n.1588+42C=
ENST00000537463.6:c.636+24204C=	ENSP00000440294.2:n.636+24204C=
NM_000138.4:c.1588+42C= , LRG_778t1:c.1588+42C=	NP_000129.3:n.1588+42C=
NM_000138.5:c.1588+42C= MANE Select	NP_000129.3:n.1588+42C=