Canonical Allele Identifier: CA490018564

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48725124C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48432927C>T , CM000677.2:g.48432927C>T	GRCh38
NC_000015.9:g.48725124C>T , CM000677.1:g.48725124C>T	GRCh37
NC_000015.8:g.46512416C>T	NCBI36
NG_008805.2:g.217862G>A , LRG_778:g.217862G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6678G>A	ENSP00000453958.2:p.Gly2226=
ENST00000674301.2:c.*129G>A	ENSP00000501333.2:n.*129G>A
ENST00000682170.1:n.287G>A
ENST00000316623.10:c.6678G>A MANE Select	ENSP00000325527.5:p.Gly2226=
ENST00000674301.1:c.1782G>A	ENSP00000501333.1:n.1782G>A
ENST00000316623.9:c.6678G>A	ENSP00000325527.5:p.Gly2226=
ENST00000537463.6:c.*2441G>A	ENSP00000440294.2:n.*2441G>A
ENST00000559133.5:c.1985G>A
NM_000138.4:c.6678G>A , LRG_778t1:c.6678G>A	NP_000129.3:p.Gly2226=
NM_000138.5:c.6678G>A MANE Select	NP_000129.3:p.Gly2226=