Canonical Allele Identifier: CA392332694

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48722966C>A (hg19) ; chr15:g.48430769C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48430769C>A , CM000677.2:g.48430769C>A	GRCh38
NC_000015.9:g.48722966C>A , CM000677.1:g.48722966C>A	GRCh37
NC_000015.8:g.46510258C>A	NCBI36
NG_008805.2:g.220020G>T , LRG_778:g.220020G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.6773G>T	ENSP00000453958.2:p.Cys2258Phe
ENST00000674301.2:c.*224G>T	ENSP00000501333.2:n.*224G>T
ENST00000682170.1:n.382G>T
ENST00000316623.10:c.6773G>T MANE Select	ENSP00000325527.5:p.Cys2258Phe
ENST00000674301.1:c.1877G>T	ENSP00000501333.1:n.1877G>T
ENST00000316623.9:c.6773G>T	ENSP00000325527.5:p.Cys2258Phe
ENST00000537463.6:c.*2536G>T	ENSP00000440294.2:n.*2536G>T
ENST00000559133.5:c.2080G>T
ENST00000560720.1:n.60G>T
NM_000138.4:c.6773G>T , LRG_778t1:c.6773G>T	NP_000129.3:p.Cys2258Phe
NM_000138.5:c.6773G>T MANE Select	NP_000129.3:p.Cys2258Phe