Canonical Allele Identifier: CA392325216

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48713827T>C (hg19) ; chr15:g.48421630T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48421630T>C , CM000677.2:g.48421630T>C	GRCh38
NC_000015.9:g.48713827T>C , CM000677.1:g.48713827T>C	GRCh37
NC_000015.8:g.46501119T>C	NCBI36
NG_008805.2:g.229159A>G , LRG_778:g.229159A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*435A>G	ENSP00000453958.2:n.*435A>G
ENST00000674301.2:c.*1140A>G	ENSP00000501333.2:n.*1140A>G
ENST00000682170.1:n.1808A>G
ENST00000682767.1:n.924A>G
ENST00000316623.10:c.7627A>G MANE Select	ENSP00000325527.5:p.Asn2543Asp
ENST00000674301.1:c.2793A>G	ENSP00000501333.1:n.2793A>G
ENST00000316623.9:c.7627A>G	ENSP00000325527.5:p.Asn2543Asp
ENST00000559133.5:c.2996A>G
NM_000138.4:c.7627A>G , LRG_778t1:c.7627A>G	NP_000129.3:p.Asn2543Asp
NM_000138.5:c.7627A>G MANE Select	NP_000129.3:p.Asn2543Asp