Canonical Allele Identifier: CA392330336

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48427757G>C , CM000677.2:g.48427757G>C	GRCh38
NC_000015.9:g.48719954G>C , CM000677.1:g.48719954G>C	GRCh37
NC_000015.8:g.46507246G>C	NCBI36
NG_008805.2:g.223032C>G , LRG_778:g.223032C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000138.5:c.7014C>G MANE Select	NP_000129.3:p.Tyr2338Ter
ENST00000316623.10:c.7014C>G MANE Select	ENSP00000325527.5:p.Tyr2338Ter
NM_000138.4:c.7014C>G , LRG_778t1:c.7014C>G	NP_000129.3:p.Tyr2338Ter
ENST00000316623.9:c.7014C>G	ENSP00000325527.5:p.Tyr2338Ter
ENST00000559133.5:c.2383C>G
ENST00000559133.6:c.7076C>G	ENSP00000453958.2:p.Thr2359Ser
ENST00000674301.1:c.2180C>G	ENSP00000501333.1:n.2180C>G
ENST00000674301.2:c.*527C>G	ENSP00000501333.2:n.*527C>G
ENST00000682170.1:n.1195C>G
ENST00000682767.1:n.311C>G