Canonical Allele Identifier: CA392319289

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48703421C>G (hg19) ; chr15:g.48411224C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411224C>G , CM000677.2:g.48411224C>G	GRCh38
NC_000015.9:g.48703421C>G , CM000677.1:g.48703421C>G	GRCh37
NC_000015.8:g.46490713C>G	NCBI36
NG_008805.2:g.239565G>C , LRG_778:g.239565G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1190G>C	ENSP00000453958.2:n.*1190G>C
ENST00000674301.2:c.*1895G>C	ENSP00000501333.2:n.*1895G>C
ENST00000682158.1:n.1763G>C
ENST00000682170.1:n.2563G>C
ENST00000682767.1:n.1679G>C
ENST00000316623.10:c.8382G>C MANE Select	ENSP00000325527.5:p.Leu2794Phe
ENST00000674301.1:c.3548G>C	ENSP00000501333.1:n.3548G>C
ENST00000316623.9:c.8382G>C	ENSP00000325527.5:p.Leu2794Phe
ENST00000559133.5:c.3751G>C
ENST00000561429.1:n.637G>C
NM_000138.4:c.8382G>C , LRG_778t1:c.8382G>C	NP_000129.3:p.Leu2794Phe
NM_000138.5:c.8382G>C MANE Select	NP_000129.3:p.Leu2794Phe