Canonical Allele Identifier: CA392327712

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48717597G>T (hg19) ; chr15:g.48425400G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48425400G>T , CM000677.2:g.48425400G>T	GRCh38
NC_000015.9:g.48717597G>T , CM000677.1:g.48717597G>T	GRCh37
NC_000015.8:g.46504889G>T	NCBI36
NG_008805.2:g.225389C>A , LRG_778:g.225389C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*230C>A	ENSP00000453958.2:n.*230C>A
ENST00000674301.2:c.*935C>A	ENSP00000501333.2:n.*935C>A
ENST00000682170.1:n.1603C>A
ENST00000682767.1:n.719C>A
ENST00000316623.10:c.7422C>A MANE Select	ENSP00000325527.5:p.Tyr2474Ter
ENST00000674301.1:c.2588C>A	ENSP00000501333.1:n.2588C>A
ENST00000316623.9:c.7422C>A	ENSP00000325527.5:p.Tyr2474Ter
ENST00000559133.5:c.2791C>A
NM_000138.4:c.7422C>A , LRG_778t1:c.7422C>A	NP_000129.3:p.Tyr2474Ter
NM_000138.5:c.7422C>A MANE Select	NP_000129.3:p.Tyr2474Ter