Canonical Allele Identifier: CA2520087810

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48441515T>C , CM000677.2:g.48441515T>C	GRCh38
NC_000015.9:g.48733712T>C , CM000677.1:g.48733712T>C	GRCh37
NC_000015.8:g.46521004T>C	NCBI36
NG_008805.2:g.209274A>G , LRG_778:g.209274A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6163+206A>G	ENSP00000453958.2:n.6163+206A>G
ENST00000674301.2:c.6163+206A>G	ENSP00000501333.2:n.6163+206A>G
ENST00000316623.10:c.6163+206A>G MANE Select	ENSP00000325527.5:n.6163+206A>G
ENST00000674301.1:c.1162+206A>G	ENSP00000501333.1:n.1162+206A>G
ENST00000316623.9:c.6163+206A>G	ENSP00000325527.5:n.6163+206A>G
ENST00000537463.6:c.*1926+206A>G	ENSP00000440294.2:n.*1926+206A>G
ENST00000559133.5:c.1470+206A>G
ENST00000560820.1:n.283+206A>G
NM_000138.4:c.6163+206A>G , LRG_778t1:c.6163+206A>G	NP_000129.3:n.6163+206A>G
NM_000138.5:c.6163+206A>G MANE Select	NP_000129.3:n.6163+206A>G