Canonical Allele Identifier: CA392320708

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48704780C>G (hg19) ; chr15:g.48412583C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48412583C>G , CM000677.2:g.48412583C>G	GRCh38
NC_000015.9:g.48704780C>G , CM000677.1:g.48704780C>G	GRCh37
NC_000015.8:g.46492072C>G	NCBI36
NG_008805.2:g.238206G>C , LRG_778:g.238206G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1020G>C	ENSP00000453958.2:n.*1020G>C
ENST00000674301.2:c.*1725G>C	ENSP00000501333.2:n.*1725G>C
ENST00000682158.1:n.1593G>C
ENST00000682170.1:n.2393G>C
ENST00000682767.1:n.1509G>C
ENST00000316623.10:c.8212G>C MANE Select	ENSP00000325527.5:p.Ala2738Pro
ENST00000674301.1:c.3378G>C	ENSP00000501333.1:n.3378G>C
ENST00000316623.9:c.8212G>C	ENSP00000325527.5:p.Ala2738Pro
ENST00000559133.5:c.3581G>C
ENST00000561429.1:n.467G>C
NM_000138.4:c.8212G>C , LRG_778t1:c.8212G>C	NP_000129.3:p.Ala2738Pro
NM_000138.5:c.8212G>C MANE Select	NP_000129.3:p.Ala2738Pro