Canonical Allele Identifier: CA392335316

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48726903A>C (hg19) ; chr15:g.48434706A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48434706A>C , CM000677.2:g.48434706A>C	GRCh38
NC_000015.9:g.48726903A>C , CM000677.1:g.48726903A>C	GRCh37
NC_000015.8:g.46514195A>C	NCBI36
NG_008805.2:g.216083T>G , LRG_778:g.216083T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6504T>G	ENSP00000453958.2:p.Asp2168Glu
ENST00000674301.2:c.6504T>G	ENSP00000501333.2:p.Asp2168Glu
ENST00000682170.1:n.113T>G
ENST00000316623.10:c.6504T>G MANE Select	ENSP00000325527.5:p.Asp2168Glu
ENST00000674301.1:c.1503T>G	ENSP00000501333.1:p.Asp501Glu
ENST00000316623.9:c.6504T>G	ENSP00000325527.5:p.Asp2168Glu
ENST00000537463.6:c.*2267T>G	ENSP00000440294.2:n.*2267T>G
ENST00000559133.5:c.1811T>G
NM_000138.4:c.6504T>G , LRG_778t1:c.6504T>G	NP_000129.3:p.Asp2168Glu
NM_000138.5:c.6504T>G MANE Select	NP_000129.3:p.Asp2168Glu