Canonical Allele Identifier: CA392350017

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48756153A>T (hg19) ; chr15:g.48463956A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48463956A>T , CM000677.2:g.48463956A>T	GRCh38
NC_000015.9:g.48756153A>T , CM000677.1:g.48756153A>T	GRCh37
NC_000015.8:g.46543445A>T	NCBI36
NG_008805.2:g.186833T>A , LRG_778:g.186833T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5008T>A	ENSP00000453958.2:p.Tyr1670Asn
ENST00000674301.2:c.5008T>A	ENSP00000501333.2:p.Tyr1670Asn
ENST00000684448.1:n.3682T>A
ENST00000316623.10:c.5008T>A MANE Select	ENSP00000325527.5:p.Tyr1670Asn
ENST00000674301.1:c.7T>A	ENSP00000501333.1:p.Tyr3Asn
ENST00000316623.9:c.5008T>A	ENSP00000325527.5:p.Tyr1670Asn
ENST00000537463.6:c.*771T>A	ENSP00000440294.2:n.*771T>A
ENST00000559133.5:c.315T>A
NM_000138.4:c.5008T>A , LRG_778t1:c.5008T>A	NP_000129.3:p.Tyr1670Asn
NM_000138.5:c.5008T>A MANE Select	NP_000129.3:p.Tyr1670Asn