Canonical Allele Identifier: CA392326051

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48714226A>G (hg19) ; chr15:g.48422029A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48422029A>G , CM000677.2:g.48422029A>G	GRCh38
NC_000015.9:g.48714226A>G , CM000677.1:g.48714226A>G	GRCh37
NC_000015.8:g.46501518A>G	NCBI36
NG_008805.2:g.228760T>C , LRG_778:g.228760T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*301T>C	ENSP00000453958.2:n.*301T>C
ENST00000674301.2:c.*1006T>C	ENSP00000501333.2:n.*1006T>C
ENST00000682170.1:n.1674T>C
ENST00000682767.1:n.790T>C
ENST00000316623.10:c.7493T>C MANE Select	ENSP00000325527.5:p.Phe2498Ser
ENST00000674301.1:c.2659T>C	ENSP00000501333.1:n.2659T>C
ENST00000316623.9:c.7493T>C	ENSP00000325527.5:p.Phe2498Ser
ENST00000559133.5:c.2862T>C
NM_000138.4:c.7493T>C , LRG_778t1:c.7493T>C	NP_000129.3:p.Phe2498Ser
NM_000138.5:c.7493T>C MANE Select	NP_000129.3:p.Phe2498Ser