Canonical Allele Identifier: CA269519917

Gene: FBN1

Linked Data

• dbSNP Id: rs1006892526
• MyVariant Identifiers: chr15:g.48714157G>A (hg19) ; chr15:g.48421960G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48421960G>A , CM000677.2:g.48421960G>A	GRCh38
NC_000015.9:g.48714157G>A , CM000677.1:g.48714157G>A	GRCh37
NC_000015.8:g.46501449G>A	NCBI36
NG_008805.2:g.228829C>T , LRG_778:g.228829C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.*370C>T	ENSP00000453958.2:n.*370C>T
ENST00000674301.2:c.*1075C>T	ENSP00000501333.2:n.*1075C>T
ENST00000682170.1:n.1743C>T
ENST00000682767.1:n.859C>T
ENST00000316623.10:c.7562C>T MANE Select	ENSP00000325527.5:p.Ser2521Phe
ENST00000674301.1:c.2728C>T	ENSP00000501333.1:n.2728C>T
ENST00000316623.9:c.7562C>T	ENSP00000325527.5:p.Ser2521Phe
ENST00000559133.5:c.2931C>T
NM_000138.4:c.7562C>T , LRG_778t1:c.7562C>T	NP_000129.3:p.Ser2521Phe
NM_000138.5:c.7562C>T MANE Select	NP_000129.3:p.Ser2521Phe