Canonical Allele Identifier: CA052708
Community Standard Title: NM_000138.5(FBN1):c.4342G>A (p.Asp1448Asn)
Gene: FBN1 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48470751C>T , CM000677.2:g.48470751C>T GRCh38
NC_000015.9:g.48762948C>T , CM000677.1:g.48762948C>T GRCh37
NC_000015.8:g.46550240C>T NCBI36
NG_008805.2:g.180038G>A , LRG_778:g.180038G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000138.5:c.4342G>A MANE Select NP_000129.3:p.Asp1448Asn
ENST00000316623.10:c.4342G>A MANE Select ENSP00000325527.5:p.Asp1448Asn
NM_000138.4:c.4342G>A , LRG_778t1:c.4342G>A NP_000129.3:p.Asp1448Asn
ENST00000316623.9:c.4342G>A ENSP00000325527.5:p.Asp1448Asn
ENST00000537463.6:c.*105G>A ENSP00000440294.2:n.*105G>A
ENST00000559133.6:c.4342G>A ENSP00000453958.2:p.Asp1448Asn
ENST00000674301.2:c.4342G>A ENSP00000501333.2:p.Asp1448Asn
ENST00000683268.1:n.309G>A
ENST00000684448.1:n.3016G>A
Search 100 bp 5'
Search 100 bp 3'