Canonical Allele Identifier: CA057556

Gene: FBN1

Linked Data

• dbSNP Id: rs370283154
• ExAC: 15:48720668 T / A
• gnomAD v2: 15-48720668-T-A
• gnomAD v3: 15-48428471-T-A
• gnomAD v4: 15-48428471-T-A
• MyVariant Identifiers: chr15:g.48720668T>A (hg19) ; chr15:g.48428471T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48428471T>A , CM000677.2:g.48428471T>A	GRCh38
NC_000015.9:g.48720668T>A , CM000677.1:g.48720668T>A	GRCh37
NC_000015.8:g.46507960T>A	NCBI36
NG_008805.2:g.222318A>T , LRG_778:g.222318A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6872A>T	ENSP00000453958.2:p.Asp2291Val
ENST00000674301.2:c.*323A>T	ENSP00000501333.2:n.*323A>T
ENST00000682170.1:n.481A>T
ENST00000682767.1:n.107A>T
ENST00000316623.10:c.6872A>T MANE Select	ENSP00000325527.5:p.Asp2291Val
ENST00000674301.1:c.1976A>T	ENSP00000501333.1:n.1976A>T
ENST00000316623.9:c.6872A>T	ENSP00000325527.5:p.Asp2291Val
ENST00000559133.5:c.2179A>T
ENST00000560720.1:n.159A>T
NM_000138.4:c.6872A>T , LRG_778t1:c.6872A>T	NP_000129.3:p.Asp2291Val
NM_000138.5:c.6872A>T MANE Select	NP_000129.3:p.Asp2291Val