Canonical Allele Identifier: CA392318411

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48703201C>A (hg19) ; chr15:g.48411004C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411004C>A , CM000677.2:g.48411004C>A	GRCh38
NC_000015.9:g.48703201C>A , CM000677.1:g.48703201C>A	GRCh37
NC_000015.8:g.46490493C>A	NCBI36
NG_008805.2:g.239785G>T , LRG_778:g.239785G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.*1410G>T	ENSP00000453958.2:n.*1410G>T
ENST00000682158.1:n.1983G>T
ENST00000682170.1:n.2783G>T
ENST00000682767.1:n.1899G>T
ENST00000316623.10:c.8602G>T MANE Select	ENSP00000325527.5:p.Val2868Phe
ENST00000316623.9:c.8602G>T	ENSP00000325527.5:p.Val2868Phe
ENST00000559133.5:c.3971G>T
NM_000138.4:c.8602G>T , LRG_778t1:c.8602G>T	NP_000129.3:p.Val2868Phe
NM_000138.5:c.8602G>T MANE Select	NP_000129.3:p.Val2868Phe