Canonical Allele Identifier: CA490021418

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48733943C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48441746C>T , CM000677.2:g.48441746C>T	GRCh38
NC_000015.9:g.48733943C>T , CM000677.1:g.48733943C>T	GRCh37
NC_000015.8:g.46521235C>T	NCBI36
NG_008805.2:g.209043G>A , LRG_778:g.209043G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6138G>A	ENSP00000453958.2:p.Leu2046=
ENST00000674301.2:c.6138G>A	ENSP00000501333.2:p.Leu2046=
ENST00000316623.10:c.6138G>A MANE Select	ENSP00000325527.5:p.Leu2046=
ENST00000674301.1:c.1137G>A	ENSP00000501333.1:p.Leu379=
ENST00000316623.9:c.6138G>A	ENSP00000325527.5:p.Leu2046=
ENST00000537463.6:c.*1901G>A	ENSP00000440294.2:n.*1901G>A
ENST00000559133.5:c.1445G>A
ENST00000560820.1:n.258G>A
NM_000138.4:c.6138G>A , LRG_778t1:c.6138G>A	NP_000129.3:p.Leu2046=
NM_000138.5:c.6138G>A MANE Select	NP_000129.3:p.Leu2046=