Canonical Allele Identifier: CA392320120

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48703552C>T (hg19) ; chr15:g.48411355C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411355C>T , CM000677.2:g.48411355C>T	GRCh38
NC_000015.9:g.48703552C>T , CM000677.1:g.48703552C>T	GRCh37
NC_000015.8:g.46490844C>T	NCBI36
NG_008805.2:g.239434G>A , LRG_778:g.239434G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1059G>A	ENSP00000453958.2:n.*1059G>A
ENST00000674301.2:c.*1764G>A	ENSP00000501333.2:n.*1764G>A
ENST00000682158.1:n.1632G>A
ENST00000682170.1:n.2432G>A
ENST00000682767.1:n.1548G>A
ENST00000316623.10:c.8251G>A MANE Select	ENSP00000325527.5:p.Val2751Met
ENST00000674301.1:c.3417G>A	ENSP00000501333.1:n.3417G>A
ENST00000316623.9:c.8251G>A	ENSP00000325527.5:p.Val2751Met
ENST00000559133.5:c.3620G>A
ENST00000561429.1:n.506G>A
NM_000138.4:c.8251G>A , LRG_778t1:c.8251G>A	NP_000129.3:p.Val2751Met
NM_000138.5:c.8251G>A MANE Select	NP_000129.3:p.Val2751Met