Canonical Allele Identifier: CA392336993

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48437817C>A , CM000677.2:g.48437817C>A	GRCh38
NC_000015.9:g.48730014C>A , CM000677.1:g.48730014C>A	GRCh37
NC_000015.8:g.46517306C>A	NCBI36
NG_008805.2:g.212972G>T , LRG_778:g.212972G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000138.5:c.6264G>T MANE Select	NP_000129.3:p.Lys2088Asn
ENST00000316623.10:c.6264G>T MANE Select	ENSP00000325527.5:p.Lys2088Asn
NM_000138.4:c.6264G>T , LRG_778t1:c.6264G>T	NP_000129.3:p.Lys2088Asn
ENST00000316623.9:c.6264G>T	ENSP00000325527.5:p.Lys2088Asn
ENST00000537463.6:c.*2027G>T	ENSP00000440294.2:n.*2027G>T
ENST00000559133.5:c.1571G>T
ENST00000559133.6:c.6264G>T	ENSP00000453958.2:p.Lys2088Asn
ENST00000560820.1:n.384G>T
ENST00000674301.1:c.1263G>T	ENSP00000501333.1:p.Lys421Asn
ENST00000674301.2:c.6264G>T	ENSP00000501333.2:p.Lys2088Asn