Canonical Allele Identifier: CA713394783

Gene: FBN1

Linked Data

• dbSNP Id: rs1158157212
• MyVariant Identifiers: chr15:g.48725013C>T (hg19) ; chr15:g.48432816C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48432816C>T , CM000677.2:g.48432816C>T	GRCh38
NC_000015.9:g.48725013C>T , CM000677.1:g.48725013C>T	GRCh37
NC_000015.8:g.46512305C>T	NCBI36
NG_008805.2:g.217973G>A , LRG_778:g.217973G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6739+50G>A	ENSP00000453958.2:n.6739+50G>A
ENST00000674301.2:c.*190+50G>A	ENSP00000501333.2:n.*190+50G>A
ENST00000682170.1:n.348+50G>A
ENST00000316623.10:c.6739+50G>A MANE Select	ENSP00000325527.5:n.6739+50G>A
ENST00000674301.1:c.1843+50G>A	ENSP00000501333.1:n.1843+50G>A
ENST00000316623.9:c.6739+50G>A	ENSP00000325527.5:n.6739+50G>A
ENST00000537463.6:c.*2502+50G>A	ENSP00000440294.2:n.*2502+50G>A
ENST00000559133.5:c.2046+50G>A
ENST00000560720.1:n.26+50G>A
NM_000138.4:c.6739+50G>A , LRG_778t1:c.6739+50G>A	NP_000129.3:n.6739+50G>A
NM_000138.5:c.6739+50G>A MANE Select	NP_000129.3:n.6739+50G>A