Canonical Allele Identifier: CA490018158

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48722905G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48430708G>T , CM000677.2:g.48430708G>T	GRCh38
NC_000015.9:g.48722905G>T , CM000677.1:g.48722905G>T	GRCh37
NC_000015.8:g.46510197G>T	NCBI36
NG_008805.2:g.220081C>A , LRG_778:g.220081C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6834C>A	ENSP00000453958.2:p.Pro2278=
ENST00000674301.2:c.*285C>A	ENSP00000501333.2:n.*285C>A
ENST00000682170.1:n.443C>A
ENST00000316623.10:c.6834C>A MANE Select	ENSP00000325527.5:p.Pro2278=
ENST00000674301.1:c.1938C>A	ENSP00000501333.1:n.1938C>A
ENST00000316623.9:c.6834C>A	ENSP00000325527.5:p.Pro2278=
ENST00000559133.5:c.2141C>A
ENST00000560720.1:n.121C>A
NM_000138.4:c.6834C>A , LRG_778t1:c.6834C>A	NP_000129.3:p.Pro2278=
NM_000138.5:c.6834C>A MANE Select	NP_000129.3:p.Pro2278=