Canonical Allele Identifier: CA392348115

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48460319T>G , CM000677.2:g.48460319T>G	GRCh38
NC_000015.9:g.48752516T>G , CM000677.1:g.48752516T>G	GRCh37
NC_000015.8:g.46539808T>G	NCBI36
NG_008805.2:g.190470A>C , LRG_778:g.190470A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000138.5:c.5225-2A>C MANE Select	NP_000129.3:n.5225-2A>C
ENST00000316623.10:c.5225-2A>C MANE Select	ENSP00000325527.5:n.5225-2A>C
NM_000138.4:c.5225-2A>C , LRG_778t1:c.5225-2A>C	NP_000129.3:n.5225-2A>C
ENST00000316623.9:c.5225-2A>C	ENSP00000325527.5:n.5225-2A>C
ENST00000537463.6:c.*988-2A>C	ENSP00000440294.2:n.*988-2A>C
ENST00000559133.5:c.532-2A>C
ENST00000559133.6:c.5225-2A>C	ENSP00000453958.2:n.5225-2A>C
ENST00000674301.1:c.224-2A>C	ENSP00000501333.1:n.224-2A>C
ENST00000674301.2:c.5225-2A>C	ENSP00000501333.2:n.5225-2A>C
ENST00000684448.1:n.3899-2A>C