Canonical Allele Identifier: CA392341035

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48738912C>T (hg19) ; chr15:g.48446715C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48446715C>T , CM000677.2:g.48446715C>T	GRCh38
NC_000015.9:g.48738912C>T , CM000677.1:g.48738912C>T	GRCh37
NC_000015.8:g.46526204C>T	NCBI36
NG_008805.2:g.204074G>A , LRG_778:g.204074G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.5779G>A	ENSP00000453958.2:p.Asp1927Asn
ENST00000674301.2:c.5779G>A	ENSP00000501333.2:p.Asp1927Asn
ENST00000684448.1:n.4453G>A
ENST00000316623.10:c.5779G>A MANE Select	ENSP00000325527.5:p.Asp1927Asn
ENST00000674301.1:c.778G>A	ENSP00000501333.1:p.Asp260Asn
ENST00000316623.9:c.5779G>A	ENSP00000325527.5:p.Asp1927Asn
ENST00000537463.6:c.*1542G>A	ENSP00000440294.2:n.*1542G>A
ENST00000559133.5:c.1086G>A
NM_000138.4:c.5779G>A , LRG_778t1:c.5779G>A	NP_000129.3:p.Asp1927Asn
NM_000138.5:c.5779G>A MANE Select	NP_000129.3:p.Asp1927Asn