Canonical Allele Identifier: CA392333617

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48725155A>G (hg19) ; chr15:g.48432958A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48432958A>G , CM000677.2:g.48432958A>G	GRCh38
NC_000015.9:g.48725155A>G , CM000677.1:g.48725155A>G	GRCh37
NC_000015.8:g.46512447A>G	NCBI36
NG_008805.2:g.217831T>C , LRG_778:g.217831T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6647T>C	ENSP00000453958.2:p.Leu2216Pro
ENST00000674301.2:c.*98T>C	ENSP00000501333.2:n.*98T>C
ENST00000682170.1:n.256T>C
ENST00000316623.10:c.6647T>C MANE Select	ENSP00000325527.5:p.Leu2216Pro
ENST00000674301.1:c.1751T>C	ENSP00000501333.1:n.1751T>C
ENST00000316623.9:c.6647T>C	ENSP00000325527.5:p.Leu2216Pro
ENST00000537463.6:c.*2410T>C	ENSP00000440294.2:n.*2410T>C
ENST00000559133.5:c.1954T>C
NM_000138.4:c.6647T>C , LRG_778t1:c.6647T>C	NP_000129.3:p.Leu2216Pro
NM_000138.5:c.6647T>C MANE Select	NP_000129.3:p.Leu2216Pro