Canonical Allele Identifier: CA2175527159

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48504799G= , CM000677.2:g.48504799G=	GRCh38
NC_000015.9:g.48796996G= , CM000677.1:g.48796996G=	GRCh37
NC_000015.8:g.46584288G=	NCBI36
NG_008805.2:g.145990C= , LRG_778:g.145990C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.1960+226C=	ENSP00000453958.2:n.1960+226C=
ENST00000674301.2:c.1960+226C=	ENSP00000501333.2:n.1960+226C=
ENST00000684448.1:n.634+226C=
ENST00000316623.10:c.1960+226C= MANE Select	ENSP00000325527.5:n.1960+226C=
ENST00000316623.9:c.1960+226C=	ENSP00000325527.5:n.1960+226C=
ENST00000537463.6:c.637-30149C=	ENSP00000440294.2:n.637-30149C=
NM_000138.4:c.1960+226C= , LRG_778t1:c.1960+226C=	NP_000129.3:n.1960+226C=
NM_000138.5:c.1960+226C= MANE Select	NP_000129.3:n.1960+226C=