Canonical Allele Identifier: CA392325738

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48713850C>A (hg19) ; chr15:g.48421653C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48421653C>A , CM000677.2:g.48421653C>A	GRCh38
NC_000015.9:g.48713850C>A , CM000677.1:g.48713850C>A	GRCh37
NC_000015.8:g.46501142C>A	NCBI36
NG_008805.2:g.229136G>T , LRG_778:g.229136G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*412G>T	ENSP00000453958.2:n.*412G>T
ENST00000674301.2:c.*1117G>T	ENSP00000501333.2:n.*1117G>T
ENST00000682170.1:n.1785G>T
ENST00000682767.1:n.901G>T
ENST00000316623.10:c.7604G>T MANE Select	ENSP00000325527.5:p.Cys2535Phe
ENST00000674301.1:c.2770G>T	ENSP00000501333.1:n.2770G>T
ENST00000316623.9:c.7604G>T	ENSP00000325527.5:p.Cys2535Phe
ENST00000559133.5:c.2973G>T
NM_000138.4:c.7604G>T , LRG_778t1:c.7604G>T	NP_000129.3:p.Cys2535Phe
NM_000138.5:c.7604G>T MANE Select	NP_000129.3:p.Cys2535Phe