Canonical Allele Identifier: CA392319476

Gene: FBN1

Linked Data

• dbSNP Id: rs2042860475
• MyVariant Identifiers: chr15:g.48703458G>C (hg19) ; chr15:g.48411261G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411261G>C , CM000677.2:g.48411261G>C	GRCh38
NC_000015.9:g.48703458G>C , CM000677.1:g.48703458G>C	GRCh37
NC_000015.8:g.46490750G>C	NCBI36
NG_008805.2:g.239528C>G , LRG_778:g.239528C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.*1153C>G	ENSP00000453958.2:n.*1153C>G
ENST00000674301.2:c.*1858C>G	ENSP00000501333.2:n.*1858C>G
ENST00000682158.1:n.1726C>G
ENST00000682170.1:n.2526C>G
ENST00000682767.1:n.1642C>G
ENST00000316623.10:c.8345C>G MANE Select	ENSP00000325527.5:p.Pro2782Arg
ENST00000674301.1:c.3511C>G	ENSP00000501333.1:n.3511C>G
ENST00000316623.9:c.8345C>G	ENSP00000325527.5:p.Pro2782Arg
ENST00000559133.5:c.3714C>G
ENST00000561429.1:n.600C>G
NM_000138.4:c.8345C>G , LRG_778t1:c.8345C>G	NP_000129.3:p.Pro2782Arg
NM_000138.5:c.8345C>G MANE Select	NP_000129.3:p.Pro2782Arg