Canonical Allele Identifier: CA392325187

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48713820G>T (hg19) ; chr15:g.48421623G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48421623G>T , CM000677.2:g.48421623G>T	GRCh38
NC_000015.9:g.48713820G>T , CM000677.1:g.48713820G>T	GRCh37
NC_000015.8:g.46501112G>T	NCBI36
NG_008805.2:g.229166C>A , LRG_778:g.229166C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*442C>A	ENSP00000453958.2:n.*442C>A
ENST00000674301.2:c.*1147C>A	ENSP00000501333.2:n.*1147C>A
ENST00000682170.1:n.1815C>A
ENST00000682767.1:n.931C>A
ENST00000316623.10:c.7634C>A MANE Select	ENSP00000325527.5:p.Pro2545His
ENST00000674301.1:c.2800C>A	ENSP00000501333.1:n.2800C>A
ENST00000316623.9:c.7634C>A	ENSP00000325527.5:p.Pro2545His
ENST00000559133.5:c.3003C>A
NM_000138.4:c.7634C>A , LRG_778t1:c.7634C>A	NP_000129.3:p.Pro2545His
NM_000138.5:c.7634C>A MANE Select	NP_000129.3:p.Pro2545His