Canonical Allele Identifier: CA392324497

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48777636T>G (hg19) ; chr15:g.48485439T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48485439T>G , CM000677.2:g.48485439T>G	GRCh38
NC_000015.9:g.48777636T>G , CM000677.1:g.48777636T>G	GRCh37
NC_000015.8:g.46564928T>G	NCBI36
NG_008805.2:g.165350A>C , LRG_778:g.165350A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.3647A>C	ENSP00000453958.2:p.Glu1216Ala
ENST00000674301.2:c.3647A>C	ENSP00000501333.2:p.Glu1216Ala
ENST00000684448.1:n.2321A>C
ENST00000316623.10:c.3647A>C MANE Select	ENSP00000325527.5:p.Glu1216Ala
ENST00000316623.9:c.3647A>C	ENSP00000325527.5:p.Glu1216Ala
ENST00000537463.6:c.637-10789A>C	ENSP00000440294.2:n.637-10789A>C
NM_000138.4:c.3647A>C , LRG_778t1:c.3647A>C	NP_000129.3:p.Glu1216Ala
NM_000138.5:c.3647A>C MANE Select	NP_000129.3:p.Glu1216Ala