Canonical Allele Identifier: CA392320454

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48766750C>G (hg19) ; chr15:g.48474553C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48474553C>G , CM000677.2:g.48474553C>G	GRCh38
NC_000015.9:g.48766750C>G , CM000677.1:g.48766750C>G	GRCh37
NC_000015.8:g.46554042C>G	NCBI36
NG_008805.2:g.176236G>C , LRG_778:g.176236G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.4062G>C	ENSP00000453958.2:p.Trp1354Cys
ENST00000674301.2:c.4062G>C	ENSP00000501333.2:p.Trp1354Cys
ENST00000684448.1:n.2736G>C
ENST00000316623.10:c.4062G>C MANE Select	ENSP00000325527.5:p.Trp1354Cys
ENST00000316623.9:c.4062G>C	ENSP00000325527.5:p.Trp1354Cys
ENST00000537463.6:c.734G>C	ENSP00000440294.2:p.Gly245Ala
NM_000138.4:c.4062G>C , LRG_778t1:c.4062G>C	NP_000129.3:p.Trp1354Cys
NM_000138.5:c.4062G>C MANE Select	NP_000129.3:p.Trp1354Cys