Canonical Allele Identifier: CA392346078

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48456697T>C , CM000677.2:g.48456697T>C	GRCh38
NC_000015.9:g.48748894T>C , CM000677.1:g.48748894T>C	GRCh37
NC_000015.8:g.46536186T>C	NCBI36
NG_008805.2:g.194092A>G , LRG_778:g.194092A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000138.5:c.5362A>G MANE Select	NP_000129.3:p.Ser1788Gly
ENST00000316623.10:c.5362A>G MANE Select	ENSP00000325527.5:p.Ser1788Gly
NM_000138.4:c.5362A>G , LRG_778t1:c.5362A>G	NP_000129.3:p.Ser1788Gly
ENST00000316623.9:c.5362A>G	ENSP00000325527.5:p.Ser1788Gly
ENST00000537463.6:c.*1125A>G	ENSP00000440294.2:n.*1125A>G
ENST00000559133.5:c.669A>G
ENST00000559133.6:c.5362A>G	ENSP00000453958.2:p.Ser1788Gly
ENST00000674301.1:c.361A>G	ENSP00000501333.1:p.Ser121Gly
ENST00000674301.2:c.5362A>G	ENSP00000501333.2:p.Ser1788Gly
ENST00000684448.1:n.4036A>G