Canonical Allele Identifier: CA490014471

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48704778G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48412581G>C , CM000677.2:g.48412581G>C	GRCh38
NC_000015.9:g.48704778G>C , CM000677.1:g.48704778G>C	GRCh37
NC_000015.8:g.46492070G>C	NCBI36
NG_008805.2:g.238208C>G , LRG_778:g.238208C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1022C>G	ENSP00000453958.2:n.*1022C>G
ENST00000674301.2:c.*1727C>G	ENSP00000501333.2:n.*1727C>G
ENST00000682158.1:n.1595C>G
ENST00000682170.1:n.2395C>G
ENST00000682767.1:n.1511C>G
ENST00000316623.10:c.8214C>G MANE Select	ENSP00000325527.5:p.Ala2738=
ENST00000674301.1:c.3380C>G	ENSP00000501333.1:n.3380C>G
ENST00000316623.9:c.8214C>G	ENSP00000325527.5:p.Ala2738=
ENST00000559133.5:c.3583C>G
ENST00000561429.1:n.469C>G
NM_000138.4:c.8214C>G , LRG_778t1:c.8214C>G	NP_000129.3:p.Ala2738=
NM_000138.5:c.8214C>G MANE Select	NP_000129.3:p.Ala2738=