Canonical Allele Identifier: CA392318496

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48703239C>G (hg19) ; chr15:g.48411042C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411042C>G , CM000677.2:g.48411042C>G	GRCh38
NC_000015.9:g.48703239C>G , CM000677.1:g.48703239C>G	GRCh37
NC_000015.8:g.46490531C>G	NCBI36
NG_008805.2:g.239747G>C , LRG_778:g.239747G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1372G>C	ENSP00000453958.2:n.*1372G>C
ENST00000682158.1:n.1945G>C
ENST00000682170.1:n.2745G>C
ENST00000682767.1:n.1861G>C
ENST00000316623.10:c.8564G>C MANE Select	ENSP00000325527.5:p.Ser2855Thr
ENST00000316623.9:c.8564G>C	ENSP00000325527.5:p.Ser2855Thr
ENST00000559133.5:c.3933G>C
NM_000138.4:c.8564G>C , LRG_778t1:c.8564G>C	NP_000129.3:p.Ser2855Thr
NM_000138.5:c.8564G>C MANE Select	NP_000129.3:p.Ser2855Thr