Canonical Allele Identifier: CA490017954

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48720667A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48428470A>G , CM000677.2:g.48428470A>G	GRCh38
NC_000015.9:g.48720667A>G , CM000677.1:g.48720667A>G	GRCh37
NC_000015.8:g.46507959A>G	NCBI36
NG_008805.2:g.222319T>C , LRG_778:g.222319T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6873T>C	ENSP00000453958.2:p.Asp2291=
ENST00000674301.2:c.*324T>C	ENSP00000501333.2:n.*324T>C
ENST00000682170.1:n.482T>C
ENST00000682767.1:n.108T>C
ENST00000316623.10:c.6873T>C MANE Select	ENSP00000325527.5:p.Asp2291=
ENST00000674301.1:c.1977T>C	ENSP00000501333.1:n.1977T>C
ENST00000316623.9:c.6873T>C	ENSP00000325527.5:p.Asp2291=
ENST00000559133.5:c.2180T>C
ENST00000560720.1:n.160T>C
NM_000138.4:c.6873T>C , LRG_778t1:c.6873T>C	NP_000129.3:p.Asp2291=
NM_000138.5:c.6873T>C MANE Select	NP_000129.3:p.Asp2291=