Canonical Allele Identifier: CA490119134

Gene: FBN1

Linked Data

• dbSNP Id: rs2042895792
• MyVariant Identifiers: chr15:g.48707753A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48415556A>C , CM000677.2:g.48415556A>C	GRCh38
NC_000015.9:g.48707753A>C , CM000677.1:g.48707753A>C	GRCh37
NC_000015.8:g.46495045A>C	NCBI36
NG_008805.2:g.235233T>G , LRG_778:g.235233T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*839T>G	ENSP00000453958.2:n.*839T>G
ENST00000674301.2:c.*1544T>G	ENSP00000501333.2:n.*1544T>G
ENST00000682158.1:n.1412T>G
ENST00000682170.1:n.2212T>G
ENST00000682767.1:n.1328T>G
ENST00000316623.10:c.8031T>G MANE Select	ENSP00000325527.5:p.Gly2677=
ENST00000674301.1:c.3197T>G	ENSP00000501333.1:n.3197T>G
ENST00000316623.9:c.8031T>G	ENSP00000325527.5:p.Gly2677=
ENST00000559133.5:c.3400T>G
ENST00000561429.1:n.286T>G
NM_000138.4:c.8031T>G , LRG_778t1:c.8031T>G	NP_000129.3:p.Gly2677=
NM_000138.5:c.8031T>G MANE Select	NP_000129.3:p.Gly2677=