Canonical Allele Identifier: CA392318738

Gene: FBN1

Linked Data

• COSMIC: COSM1493423
• MyVariant Identifiers: chr15:g.48703292A>T (hg19) ; chr15:g.48411095A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411095A>T , CM000677.2:g.48411095A>T	GRCh38
NC_000015.9:g.48703292A>T , CM000677.1:g.48703292A>T	GRCh37
NC_000015.8:g.46490584A>T	NCBI36
NG_008805.2:g.239694T>A , LRG_778:g.239694T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1319T>A	ENSP00000453958.2:n.*1319T>A
ENST00000674301.2:c.*2024T>A	ENSP00000501333.2:n.*2024T>A
ENST00000682158.1:n.1892T>A
ENST00000682170.1:n.2692T>A
ENST00000682767.1:n.1808T>A
ENST00000316623.10:c.8511T>A MANE Select	ENSP00000325527.5:p.Tyr2837Ter
ENST00000674301.1:c.3677T>A	ENSP00000501333.1:n.3677T>A
ENST00000316623.9:c.8511T>A	ENSP00000325527.5:p.Tyr2837Ter
ENST00000559133.5:c.3880T>A
NM_000138.4:c.8511T>A , LRG_778t1:c.8511T>A	NP_000129.3:p.Tyr2837Ter
NM_000138.5:c.8511T>A MANE Select	NP_000129.3:p.Tyr2837Ter