Canonical Allele Identifier: CA392325896

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48714182G>A (hg19) ; chr15:g.48421985G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48421985G>A , CM000677.2:g.48421985G>A	GRCh38
NC_000015.9:g.48714182G>A , CM000677.1:g.48714182G>A	GRCh37
NC_000015.8:g.46501474G>A	NCBI36
NG_008805.2:g.228804C>T , LRG_778:g.228804C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*345C>T	ENSP00000453958.2:n.*345C>T
ENST00000674301.2:c.*1050C>T	ENSP00000501333.2:n.*1050C>T
ENST00000682170.1:n.1718C>T
ENST00000682767.1:n.834C>T
ENST00000316623.10:c.7537C>T MANE Select	ENSP00000325527.5:p.Pro2513Ser
ENST00000674301.1:c.2703C>T	ENSP00000501333.1:n.2703C>T
ENST00000316623.9:c.7537C>T	ENSP00000325527.5:p.Pro2513Ser
ENST00000559133.5:c.2906C>T
NM_000138.4:c.7537C>T , LRG_778t1:c.7537C>T	NP_000129.3:p.Pro2513Ser
NM_000138.5:c.7537C>T MANE Select	NP_000129.3:p.Pro2513Ser