Canonical Allele Identifier: CA059593

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48412726A>C , CM000677.2:g.48412726A>C	GRCh38
NC_000015.9:g.48704923A>C , CM000677.1:g.48704923A>C	GRCh37
NC_000015.8:g.46492215A>C	NCBI36
NG_008805.2:g.238063T>G , LRG_778:g.238063T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000138.5:c.8069T>G MANE Select	NP_000129.3:p.Met2690Arg
ENST00000316623.10:c.8069T>G MANE Select	ENSP00000325527.5:p.Met2690Arg
NM_000138.4:c.8069T>G , LRG_778t1:c.8069T>G	NP_000129.3:p.Met2690Arg
ENST00000316623.9:c.8069T>G	ENSP00000325527.5:p.Met2690Arg
ENST00000559133.5:c.3438T>G
ENST00000559133.6:c.*877T>G	ENSP00000453958.2:n.*877T>G
ENST00000561429.1:n.324T>G
ENST00000674301.1:c.3235T>G	ENSP00000501333.1:n.3235T>G
ENST00000674301.2:c.*1582T>G	ENSP00000501333.2:n.*1582T>G
ENST00000682158.1:n.1450T>G
ENST00000682170.1:n.2250T>G
ENST00000682767.1:n.1366T>G