Canonical Allele Identifier: CA392318863

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48703324A>C (hg19) ; chr15:g.48411127A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411127A>C , CM000677.2:g.48411127A>C	GRCh38
NC_000015.9:g.48703324A>C , CM000677.1:g.48703324A>C	GRCh37
NC_000015.8:g.46490616A>C	NCBI36
NG_008805.2:g.239662T>G , LRG_778:g.239662T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1287T>G	ENSP00000453958.2:n.*1287T>G
ENST00000674301.2:c.*1992T>G	ENSP00000501333.2:n.*1992T>G
ENST00000682158.1:n.1860T>G
ENST00000682170.1:n.2660T>G
ENST00000682767.1:n.1776T>G
ENST00000316623.10:c.8479T>G MANE Select	ENSP00000325527.5:p.Tyr2827Asp
ENST00000674301.1:c.3645T>G	ENSP00000501333.1:n.3645T>G
ENST00000316623.9:c.8479T>G	ENSP00000325527.5:p.Tyr2827Asp
ENST00000559133.5:c.3848T>G
NM_000138.4:c.8479T>G , LRG_778t1:c.8479T>G	NP_000129.3:p.Tyr2827Asp
NM_000138.5:c.8479T>G MANE Select	NP_000129.3:p.Tyr2827Asp