Canonical Allele Identifier: CA2575716944

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48428502A>C , CM000677.2:g.48428502A>C	GRCh38
NC_000015.9:g.48720699A>C , CM000677.1:g.48720699A>C	GRCh37
NC_000015.8:g.46507991A>C	NCBI36
NG_008805.2:g.222287T>G , LRG_778:g.222287T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6872-31T>G	ENSP00000453958.2:n.6872-31T>G
ENST00000674301.2:c.*323-31T>G	ENSP00000501333.2:n.*323-31T>G
ENST00000682170.1:n.481-31T>G
ENST00000682767.1:n.76T>G
ENST00000316623.10:c.6872-31T>G MANE Select	ENSP00000325527.5:n.6872-31T>G
ENST00000674301.1:c.1976-31T>G	ENSP00000501333.1:n.1976-31T>G
ENST00000316623.9:c.6872-31T>G	ENSP00000325527.5:n.6872-31T>G
ENST00000559133.5:c.2179-31T>G
ENST00000560720.1:n.159-31T>G
NM_000138.4:c.6872-31T>G , LRG_778t1:c.6872-31T>G	NP_000129.3:n.6872-31T>G
NM_000138.5:c.6872-31T>G MANE Select	NP_000129.3:n.6872-31T>G