Canonical Allele Identifier: CA392339892

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48444653A>T , CM000677.2:g.48444653A>T	GRCh38
NC_000015.9:g.48736850A>T , CM000677.1:g.48736850A>T	GRCh37
NC_000015.8:g.46524142A>T	NCBI36
NG_008805.2:g.206136T>A , LRG_778:g.206136T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000138.5:c.5925T>A MANE Select	NP_000129.3:p.Asn1975Lys
ENST00000316623.10:c.5925T>A MANE Select	ENSP00000325527.5:p.Asn1975Lys
NM_000138.4:c.5925T>A , LRG_778t1:c.5925T>A	NP_000129.3:p.Asn1975Lys
ENST00000316623.9:c.5925T>A	ENSP00000325527.5:p.Asn1975Lys
ENST00000537463.6:c.*1688T>A	ENSP00000440294.2:n.*1688T>A
ENST00000559133.5:c.1232T>A
ENST00000559133.6:c.5925T>A	ENSP00000453958.2:p.Asn1975Lys
ENST00000560820.1:n.45T>A
ENST00000674301.1:c.924T>A	ENSP00000501333.1:p.Asn308Lys
ENST00000674301.2:c.5925T>A	ENSP00000501333.2:p.Asn1975Lys
ENST00000684448.1:n.4599T>A