Canonical Allele Identifier: CA392320701

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48704777A>C (hg19) ; chr15:g.48412580A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48412580A>C , CM000677.2:g.48412580A>C	GRCh38
NC_000015.9:g.48704777A>C , CM000677.1:g.48704777A>C	GRCh37
NC_000015.8:g.46492069A>C	NCBI36
NG_008805.2:g.238209T>G , LRG_778:g.238209T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.*1023T>G	ENSP00000453958.2:n.*1023T>G
ENST00000674301.2:c.*1728T>G	ENSP00000501333.2:n.*1728T>G
ENST00000682158.1:n.1596T>G
ENST00000682170.1:n.2396T>G
ENST00000682767.1:n.1512T>G
ENST00000316623.10:c.8215T>G MANE Select	ENSP00000325527.5:p.Ser2739Ala
ENST00000674301.1:c.3381T>G	ENSP00000501333.1:n.3381T>G
ENST00000316623.9:c.8215T>G	ENSP00000325527.5:p.Ser2739Ala
ENST00000559133.5:c.3584T>G
ENST00000561429.1:n.470T>G
NM_000138.4:c.8215T>G , LRG_778t1:c.8215T>G	NP_000129.3:p.Ser2739Ala
NM_000138.5:c.8215T>G MANE Select	NP_000129.3:p.Ser2739Ala