Canonical Allele Identifier: CA392329116

Gene: FBN1

Linked Data

• ClinVar Variation Id: 1038536
• ClinVar RCV Id: RCV001341863
• dbSNP Id: rs2043543012
• MyVariant Identifiers: chr15:g.48782131T>A (hg19) ; chr15:g.48489934T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48489934T>A , CM000677.2:g.48489934T>A	GRCh38
NC_000015.9:g.48782131T>A , CM000677.1:g.48782131T>A	GRCh37
NC_000015.8:g.46569423T>A	NCBI36
NG_008805.2:g.160855A>T , LRG_778:g.160855A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.2999A>T	ENSP00000453958.2:p.Asn1000Ile
ENST00000674301.2:c.2999A>T	ENSP00000501333.2:p.Asn1000Ile
ENST00000684448.1:n.1673A>T
ENST00000316623.10:c.2999A>T MANE Select	ENSP00000325527.5:p.Asn1000Ile
ENST00000316623.9:c.2999A>T	ENSP00000325527.5:p.Asn1000Ile
ENST00000537463.6:c.637-15284A>T	ENSP00000440294.2:n.637-15284A>T
NM_000138.4:c.2999A>T , LRG_778t1:c.2999A>T	NP_000129.3:p.Asn1000Ile
NM_000138.5:c.2999A>T MANE Select	NP_000129.3:p.Asn1000Ile