Canonical Allele Identifier: CA490018767

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48726873A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48434676A>G , CM000677.2:g.48434676A>G	GRCh38
NC_000015.9:g.48726873A>G , CM000677.1:g.48726873A>G	GRCh37
NC_000015.8:g.46514165A>G	NCBI36
NG_008805.2:g.216113T>C , LRG_778:g.216113T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6534T>C	ENSP00000453958.2:p.Asn2178=
ENST00000674301.2:c.6534T>C	ENSP00000501333.2:p.Asn2178=
ENST00000682170.1:n.143T>C
ENST00000316623.10:c.6534T>C MANE Select	ENSP00000325527.5:p.Asn2178=
ENST00000674301.1:c.1533T>C	ENSP00000501333.1:p.Asn511=
ENST00000316623.9:c.6534T>C	ENSP00000325527.5:p.Asn2178=
ENST00000537463.6:c.*2297T>C	ENSP00000440294.2:n.*2297T>C
ENST00000559133.5:c.1841T>C
NM_000138.4:c.6534T>C , LRG_778t1:c.6534T>C	NP_000129.3:p.Asn2178=
NM_000138.5:c.6534T>C MANE Select	NP_000129.3:p.Asn2178=