Canonical Allele Identifier: CA392338054

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48733945A>C (hg19) ; chr15:g.48441748A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48441748A>C , CM000677.2:g.48441748A>C	GRCh38
NC_000015.9:g.48733945A>C , CM000677.1:g.48733945A>C	GRCh37
NC_000015.8:g.46521237A>C	NCBI36
NG_008805.2:g.209041T>G , LRG_778:g.209041T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6136T>G	ENSP00000453958.2:p.Leu2046Val
ENST00000674301.2:c.6136T>G	ENSP00000501333.2:p.Leu2046Val
ENST00000316623.10:c.6136T>G MANE Select	ENSP00000325527.5:p.Leu2046Val
ENST00000674301.1:c.1135T>G	ENSP00000501333.1:p.Leu379Val
ENST00000316623.9:c.6136T>G	ENSP00000325527.5:p.Leu2046Val
ENST00000537463.6:c.*1899T>G	ENSP00000440294.2:n.*1899T>G
ENST00000559133.5:c.1443T>G
ENST00000560820.1:n.256T>G
NM_000138.4:c.6136T>G , LRG_778t1:c.6136T>G	NP_000129.3:p.Leu2046Val
NM_000138.5:c.6136T>G MANE Select	NP_000129.3:p.Leu2046Val