Canonical Allele Identifier: CA490018227

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48722962A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48430765A>C , CM000677.2:g.48430765A>C	GRCh38
NC_000015.9:g.48722962A>C , CM000677.1:g.48722962A>C	GRCh37
NC_000015.8:g.46510254A>C	NCBI36
NG_008805.2:g.220024T>G , LRG_778:g.220024T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.6777T>G	ENSP00000453958.2:p.Thr2259=
ENST00000674301.2:c.*228T>G	ENSP00000501333.2:n.*228T>G
ENST00000682170.1:n.386T>G
ENST00000316623.10:c.6777T>G MANE Select	ENSP00000325527.5:p.Thr2259=
ENST00000674301.1:c.1881T>G	ENSP00000501333.1:n.1881T>G
ENST00000316623.9:c.6777T>G	ENSP00000325527.5:p.Thr2259=
ENST00000537463.6:c.*2540T>G	ENSP00000440294.2:n.*2540T>G
ENST00000559133.5:c.2084T>G
ENST00000560720.1:n.64T>G
NM_000138.4:c.6777T>G , LRG_778t1:c.6777T>G	NP_000129.3:p.Thr2259=
NM_000138.5:c.6777T>G MANE Select	NP_000129.3:p.Thr2259=