Canonical Allele Identifier: CA392319316

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48703427T>G (hg19) ; chr15:g.48411230T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411230T>G , CM000677.2:g.48411230T>G	GRCh38
NC_000015.9:g.48703427T>G , CM000677.1:g.48703427T>G	GRCh37
NC_000015.8:g.46490719T>G	NCBI36
NG_008805.2:g.239559A>C , LRG_778:g.239559A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1184A>C	ENSP00000453958.2:n.*1184A>C
ENST00000674301.2:c.*1889A>C	ENSP00000501333.2:n.*1889A>C
ENST00000682158.1:n.1757A>C
ENST00000682170.1:n.2557A>C
ENST00000682767.1:n.1673A>C
ENST00000316623.10:c.8376A>C MANE Select	ENSP00000325527.5:p.Arg2792Ser
ENST00000674301.1:c.3542A>C	ENSP00000501333.1:n.3542A>C
ENST00000316623.9:c.8376A>C	ENSP00000325527.5:p.Arg2792Ser
ENST00000559133.5:c.3745A>C
ENST00000561429.1:n.631A>C
NM_000138.4:c.8376A>C , LRG_778t1:c.8376A>C	NP_000129.3:p.Arg2792Ser
NM_000138.5:c.8376A>C MANE Select	NP_000129.3:p.Arg2792Ser