Canonical Allele Identifier: CA057177

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48432982T>C , CM000677.2:g.48432982T>C	GRCh38
NC_000015.9:g.48725179T>C , CM000677.1:g.48725179T>C	GRCh37
NC_000015.8:g.46512471T>C	NCBI36
NG_008805.2:g.217807A>G , LRG_778:g.217807A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000138.5:c.6623A>G MANE Select	NP_000129.3:p.Asn2208Ser
ENST00000316623.10:c.6623A>G MANE Select	ENSP00000325527.5:p.Asn2208Ser
NM_000138.4:c.6623A>G , LRG_778t1:c.6623A>G	NP_000129.3:p.Asn2208Ser
ENST00000316623.9:c.6623A>G	ENSP00000325527.5:p.Asn2208Ser
ENST00000537463.6:c.*2386A>G	ENSP00000440294.2:n.*2386A>G
ENST00000559133.5:c.1930A>G
ENST00000559133.6:c.6623A>G	ENSP00000453958.2:p.Asn2208Ser
ENST00000674301.1:c.1727A>G	ENSP00000501333.1:n.1727A>G
ENST00000674301.2:c.*74A>G	ENSP00000501333.2:n.*74A>G
ENST00000682170.1:n.232A>G