Canonical Allele Identifier: CA392342342

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48741062A>C (hg19) ; chr15:g.48448865A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48448865A>C , CM000677.2:g.48448865A>C	GRCh38
NC_000015.9:g.48741062A>C , CM000677.1:g.48741062A>C	GRCh37
NC_000015.8:g.46528354A>C	NCBI36
NG_008805.2:g.201924T>G , LRG_778:g.201924T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5574T>G	ENSP00000453958.2:p.Asn1858Lys
ENST00000674301.2:c.5574T>G	ENSP00000501333.2:p.Asn1858Lys
ENST00000684448.1:n.4248T>G
ENST00000316623.10:c.5574T>G MANE Select	ENSP00000325527.5:p.Asn1858Lys
ENST00000674301.1:c.573T>G	ENSP00000501333.1:p.Asn191Lys
ENST00000316623.9:c.5574T>G	ENSP00000325527.5:p.Asn1858Lys
ENST00000537463.6:c.*1337T>G	ENSP00000440294.2:n.*1337T>G
ENST00000559133.5:c.881T>G
NM_000138.4:c.5574T>G , LRG_778t1:c.5574T>G	NP_000129.3:p.Asn1858Lys
NM_000138.5:c.5574T>G MANE Select	NP_000129.3:p.Asn1858Lys