Canonical Allele Identifier: CA392324484

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48420706G>C , CM000677.2:g.48420706G>C	GRCh38
NC_000015.9:g.48712903G>C , CM000677.1:g.48712903G>C	GRCh37
NC_000015.8:g.46500195G>C	NCBI36
NG_008805.2:g.230083C>G , LRG_778:g.230083C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000138.5:c.7800C>G MANE Select	NP_000129.3:p.Tyr2600Ter
ENST00000316623.10:c.7800C>G MANE Select	ENSP00000325527.5:p.Tyr2600Ter
NM_000138.4:c.7800C>G , LRG_778t1:c.7800C>G	NP_000129.3:p.Tyr2600Ter
ENST00000316623.9:c.7800C>G	ENSP00000325527.5:p.Tyr2600Ter
ENST00000559133.5:c.3169C>G
ENST00000559133.6:c.*608C>G	ENSP00000453958.2:n.*608C>G
ENST00000674301.1:c.2966C>G	ENSP00000501333.1:n.2966C>G
ENST00000674301.2:c.*1313C>G	ENSP00000501333.2:n.*1313C>G
ENST00000682170.1:n.1981C>G
ENST00000682767.1:n.1097C>G