Canonical Allele Identifier: CA392340311

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48800821T>C (hg19) ; chr15:g.48508624T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48508624T>C , CM000677.2:g.48508624T>C	GRCh38
NC_000015.9:g.48800821T>C , CM000677.1:g.48800821T>C	GRCh37
NC_000015.8:g.46588113T>C	NCBI36
NG_008805.2:g.142165A>G , LRG_778:g.142165A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.1795A>G	ENSP00000453958.2:p.Lys599Glu
ENST00000674301.2:c.1795A>G	ENSP00000501333.2:p.Lys599Glu
ENST00000684448.1:n.469A>G
ENST00000316623.10:c.1795A>G MANE Select	ENSP00000325527.5:p.Lys599Glu
ENST00000316623.9:c.1795A>G	ENSP00000325527.5:p.Lys599Glu
ENST00000537463.6:c.636+29087A>G	ENSP00000440294.2:n.636+29087A>G
NM_000138.4:c.1795A>G , LRG_778t1:c.1795A>G	NP_000129.3:p.Lys599Glu
NM_000138.5:c.1795A>G MANE Select	NP_000129.3:p.Lys599Glu