Canonical Allele Identifier: CA392330492

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48784683C>G (hg19) ; chr15:g.48492486C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48492486C>G , CM000677.2:g.48492486C>G	GRCh38
NC_000015.9:g.48784683C>G , CM000677.1:g.48784683C>G	GRCh37
NC_000015.8:g.46571975C>G	NCBI36
NG_008805.2:g.158303G>C , LRG_778:g.158303G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.2829G>C	ENSP00000453958.2:p.Leu943Phe
ENST00000674301.2:c.2829G>C	ENSP00000501333.2:p.Leu943Phe
ENST00000684448.1:n.1503G>C
ENST00000316623.10:c.2829G>C MANE Select	ENSP00000325527.5:p.Leu943Phe
ENST00000316623.9:c.2829G>C	ENSP00000325527.5:p.Leu943Phe
ENST00000537463.6:c.637-17836G>C	ENSP00000440294.2:n.637-17836G>C
NM_000138.4:c.2829G>C , LRG_778t1:c.2829G>C	NP_000129.3:p.Leu943Phe
NM_000138.5:c.2829G>C MANE Select	NP_000129.3:p.Leu943Phe