Canonical Allele Identifier: CA392338417

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48733998G>C (hg19) ; chr15:g.48441801G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48441801G>C , CM000677.2:g.48441801G>C	GRCh38
NC_000015.9:g.48733998G>C , CM000677.1:g.48733998G>C	GRCh37
NC_000015.8:g.46521290G>C	NCBI36
NG_008805.2:g.208988C>G , LRG_778:g.208988C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6083C>G	ENSP00000453958.2:p.Thr2028Arg
ENST00000674301.2:c.6083C>G	ENSP00000501333.2:p.Thr2028Arg
ENST00000316623.10:c.6083C>G MANE Select	ENSP00000325527.5:p.Thr2028Arg
ENST00000674301.1:c.1082C>G	ENSP00000501333.1:p.Thr361Arg
ENST00000316623.9:c.6083C>G	ENSP00000325527.5:p.Thr2028Arg
ENST00000537463.6:c.*1846C>G	ENSP00000440294.2:n.*1846C>G
ENST00000559133.5:c.1390C>G
ENST00000560820.1:n.203C>G
NM_000138.4:c.6083C>G , LRG_778t1:c.6083C>G	NP_000129.3:p.Thr2028Arg
NM_000138.5:c.6083C>G MANE Select	NP_000129.3:p.Thr2028Arg