Canonical Allele Identifier: CA392325714

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48713844G>T (hg19) ; chr15:g.48421647G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48421647G>T , CM000677.2:g.48421647G>T	GRCh38
NC_000015.9:g.48713844G>T , CM000677.1:g.48713844G>T	GRCh37
NC_000015.8:g.46501136G>T	NCBI36
NG_008805.2:g.229142C>A , LRG_778:g.229142C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*418C>A	ENSP00000453958.2:n.*418C>A
ENST00000674301.2:c.*1123C>A	ENSP00000501333.2:n.*1123C>A
ENST00000682170.1:n.1791C>A
ENST00000682767.1:n.907C>A
ENST00000316623.10:c.7610C>A MANE Select	ENSP00000325527.5:p.Ser2537Tyr
ENST00000674301.1:c.2776C>A	ENSP00000501333.1:n.2776C>A
ENST00000316623.9:c.7610C>A	ENSP00000325527.5:p.Ser2537Tyr
ENST00000559133.5:c.2979C>A
NM_000138.4:c.7610C>A , LRG_778t1:c.7610C>A	NP_000129.3:p.Ser2537Tyr
NM_000138.5:c.7610C>A MANE Select	NP_000129.3:p.Ser2537Tyr