Canonical Allele Identifier: CA017517

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48415577G>C , CM000677.2:g.48415577G>C	GRCh38
NC_000015.9:g.48707774G>C , CM000677.1:g.48707774G>C	GRCh37
NC_000015.8:g.46495066G>C	NCBI36
NG_008805.2:g.235212C>G , LRG_778:g.235212C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*818C>G	ENSP00000453958.2:n.*818C>G
ENST00000674301.2:c.*1523C>G	ENSP00000501333.2:n.*1523C>G
ENST00000682158.1:n.1391C>G
ENST00000682170.1:n.2191C>G
ENST00000682767.1:n.1307C>G
ENST00000316623.10:c.8010C>G MANE Select	ENSP00000325527.5:p.Tyr2670Ter
ENST00000674301.1:c.3176C>G	ENSP00000501333.1:n.3176C>G
ENST00000316623.9:c.8010C>G	ENSP00000325527.5:p.Tyr2670Ter
ENST00000559133.5:c.3379C>G
ENST00000561429.1:n.265C>G
NM_000138.4:c.8010C>G , LRG_778t1:c.8010C>G	NP_000129.3:p.Tyr2670Ter
NM_000138.5:c.8010C>G MANE Select	NP_000129.3:p.Tyr2670Ter