Canonical Allele Identifier: CA490027136

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48760175G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48467978G>A , CM000677.2:g.48467978G>A	GRCh38
NC_000015.9:g.48760175G>A , CM000677.1:g.48760175G>A	GRCh37
NC_000015.8:g.46547467G>A	NCBI36
NG_008805.2:g.182811C>T , LRG_778:g.182811C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.4707C>T	ENSP00000453958.2:p.Ala1569=
ENST00000674301.2:c.4707C>T	ENSP00000501333.2:p.Ala1569=
ENST00000684448.1:n.3381C>T
ENST00000316623.10:c.4707C>T MANE Select	ENSP00000325527.5:p.Ala1569=
ENST00000316623.9:c.4707C>T	ENSP00000325527.5:p.Ala1569=
ENST00000537463.6:c.*470C>T	ENSP00000440294.2:n.*470C>T
ENST00000559133.5:c.14C>T
NM_000138.4:c.4707C>T , LRG_778t1:c.4707C>T	NP_000129.3:p.Ala1569=
NM_000138.5:c.4707C>T MANE Select	NP_000129.3:p.Ala1569=