Canonical Allele Identifier: CA490018232

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48722965A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48430768A>G , CM000677.2:g.48430768A>G	GRCh38
NC_000015.9:g.48722965A>G , CM000677.1:g.48722965A>G	GRCh37
NC_000015.8:g.46510257A>G	NCBI36
NG_008805.2:g.220021T>C , LRG_778:g.220021T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.6774T>C	ENSP00000453958.2:p.Cys2258=
ENST00000674301.2:c.*225T>C	ENSP00000501333.2:n.*225T>C
ENST00000682170.1:n.383T>C
ENST00000316623.10:c.6774T>C MANE Select	ENSP00000325527.5:p.Cys2258=
ENST00000674301.1:c.1878T>C	ENSP00000501333.1:n.1878T>C
ENST00000316623.9:c.6774T>C	ENSP00000325527.5:p.Cys2258=
ENST00000537463.6:c.*2537T>C	ENSP00000440294.2:n.*2537T>C
ENST00000559133.5:c.2081T>C
ENST00000560720.1:n.61T>C
NM_000138.4:c.6774T>C , LRG_778t1:c.6774T>C	NP_000129.3:p.Cys2258=
NM_000138.5:c.6774T>C MANE Select	NP_000129.3:p.Cys2258=