Canonical Allele Identifier: CA490018729

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48726810A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48434613A>G , CM000677.2:g.48434613A>G	GRCh38
NC_000015.9:g.48726810A>G , CM000677.1:g.48726810A>G	GRCh37
NC_000015.8:g.46514102A>G	NCBI36
NG_008805.2:g.216176T>C , LRG_778:g.216176T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6597T>C	ENSP00000453958.2:p.Gly2199=
ENST00000674301.2:c.6597T>C	ENSP00000501333.2:p.Gly2199=
ENST00000682170.1:n.206T>C
ENST00000316623.10:c.6597T>C MANE Select	ENSP00000325527.5:p.Gly2199=
ENST00000674301.1:c.1596T>C	ENSP00000501333.1:p.Gly532=
ENST00000316623.9:c.6597T>C	ENSP00000325527.5:p.Gly2199=
ENST00000537463.6:c.*2360T>C	ENSP00000440294.2:n.*2360T>C
ENST00000559133.5:c.1904T>C
NM_000138.4:c.6597T>C , LRG_778t1:c.6597T>C	NP_000129.3:p.Gly2199=
NM_000138.5:c.6597T>C MANE Select	NP_000129.3:p.Gly2199=