Canonical Allele Identifier: CA392321632

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48704930A>G (hg19) ; chr15:g.48412733A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48412733A>G , CM000677.2:g.48412733A>G	GRCh38
NC_000015.9:g.48704930A>G , CM000677.1:g.48704930A>G	GRCh37
NC_000015.8:g.46492222A>G	NCBI36
NG_008805.2:g.238056T>C , LRG_778:g.238056T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*870T>C	ENSP00000453958.2:n.*870T>C
ENST00000674301.2:c.*1575T>C	ENSP00000501333.2:n.*1575T>C
ENST00000682158.1:n.1443T>C
ENST00000682170.1:n.2243T>C
ENST00000682767.1:n.1359T>C
ENST00000316623.10:c.8062T>C MANE Select	ENSP00000325527.5:p.Ser2688Pro
ENST00000674301.1:c.3228T>C	ENSP00000501333.1:n.3228T>C
ENST00000316623.9:c.8062T>C	ENSP00000325527.5:p.Ser2688Pro
ENST00000559133.5:c.3431T>C
ENST00000561429.1:n.317T>C
NM_000138.4:c.8062T>C , LRG_778t1:c.8062T>C	NP_000129.3:p.Ser2688Pro
NM_000138.5:c.8062T>C MANE Select	NP_000129.3:p.Ser2688Pro