Canonical Allele Identifier: CA392330628

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48720593C>G (hg19) ; chr15:g.48428396C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48428396C>G , CM000677.2:g.48428396C>G	GRCh38
NC_000015.9:g.48720593C>G , CM000677.1:g.48720593C>G	GRCh37
NC_000015.8:g.46507885C>G	NCBI36
NG_008805.2:g.222393G>C , LRG_778:g.222393G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6947G>C	ENSP00000453958.2:p.Cys2316Ser
ENST00000674301.2:c.*398G>C	ENSP00000501333.2:n.*398G>C
ENST00000682170.1:n.556G>C
ENST00000682767.1:n.182G>C
ENST00000316623.10:c.6947G>C MANE Select	ENSP00000325527.5:p.Cys2316Ser
ENST00000674301.1:c.2051G>C	ENSP00000501333.1:n.2051G>C
ENST00000316623.9:c.6947G>C	ENSP00000325527.5:p.Cys2316Ser
ENST00000559133.5:c.2254G>C
ENST00000560720.1:n.234G>C
NM_000138.4:c.6947G>C , LRG_778t1:c.6947G>C	NP_000129.3:p.Cys2316Ser
NM_000138.5:c.6947G>C MANE Select	NP_000129.3:p.Cys2316Ser