Canonical Allele Identifier: CA392318804

Gene: FBN1

Linked Data

• COSMIC: COSM4055295
• MyVariant Identifiers: chr15:g.48703309T>G (hg19) ; chr15:g.48411112T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411112T>G , CM000677.2:g.48411112T>G	GRCh38
NC_000015.9:g.48703309T>G , CM000677.1:g.48703309T>G	GRCh37
NC_000015.8:g.46490601T>G	NCBI36
NG_008805.2:g.239677A>C , LRG_778:g.239677A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1302A>C	ENSP00000453958.2:n.*1302A>C
ENST00000674301.2:c.*2007A>C	ENSP00000501333.2:n.*2007A>C
ENST00000682158.1:n.1875A>C
ENST00000682170.1:n.2675A>C
ENST00000682767.1:n.1791A>C
ENST00000316623.10:c.8494A>C MANE Select	ENSP00000325527.5:p.Ser2832Arg
ENST00000674301.1:c.3660A>C	ENSP00000501333.1:n.3660A>C
ENST00000316623.9:c.8494A>C	ENSP00000325527.5:p.Ser2832Arg
ENST00000559133.5:c.3863A>C
NM_000138.4:c.8494A>C , LRG_778t1:c.8494A>C	NP_000129.3:p.Ser2832Arg
NM_000138.5:c.8494A>C MANE Select	NP_000129.3:p.Ser2832Arg