Canonical Allele Identifier: CA017627

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48412576T>C , CM000677.2:g.48412576T>C	GRCh38
NC_000015.9:g.48704773T>C , CM000677.1:g.48704773T>C	GRCh37
NC_000015.8:g.46492065T>C	NCBI36
NG_008805.2:g.238213A>G , LRG_778:g.238213A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000138.5:c.8219A>G MANE Select	NP_000129.3:p.Asn2740Ser
ENST00000316623.10:c.8219A>G MANE Select	ENSP00000325527.5:p.Asn2740Ser
NM_000138.4:c.8219A>G , LRG_778t1:c.8219A>G	NP_000129.3:p.Asn2740Ser
ENST00000316623.9:c.8219A>G	ENSP00000325527.5:p.Asn2740Ser
ENST00000559133.5:c.3588A>G
ENST00000559133.6:c.*1027A>G	ENSP00000453958.2:n.*1027A>G
ENST00000561429.1:n.474A>G
ENST00000674301.1:c.3385A>G	ENSP00000501333.1:n.3385A>G
ENST00000674301.2:c.*1732A>G	ENSP00000501333.2:n.*1732A>G
ENST00000682158.1:n.1600A>G
ENST00000682170.1:n.2400A>G
ENST00000682767.1:n.1516A>G