Canonical Allele Identifier: CA392319064

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48703366T>G (hg19) ; chr15:g.48411169T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411169T>G , CM000677.2:g.48411169T>G	GRCh38
NC_000015.9:g.48703366T>G , CM000677.1:g.48703366T>G	GRCh37
NC_000015.8:g.46490658T>G	NCBI36
NG_008805.2:g.239620A>C , LRG_778:g.239620A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1245A>C	ENSP00000453958.2:n.*1245A>C
ENST00000674301.2:c.*1950A>C	ENSP00000501333.2:n.*1950A>C
ENST00000682158.1:n.1818A>C
ENST00000682170.1:n.2618A>C
ENST00000682767.1:n.1734A>C
ENST00000316623.10:c.8437A>C MANE Select	ENSP00000325527.5:p.Ser2813Arg
ENST00000674301.1:c.3603A>C	ENSP00000501333.1:n.3603A>C
ENST00000316623.9:c.8437A>C	ENSP00000325527.5:p.Ser2813Arg
ENST00000559133.5:c.3806A>C
NM_000138.4:c.8437A>C , LRG_778t1:c.8437A>C	NP_000129.3:p.Ser2813Arg
NM_000138.5:c.8437A>C MANE Select	NP_000129.3:p.Ser2813Arg