Canonical Allele Identifier: CA2527011360
Gene: FBN1 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48446885C>T , CM000677.2:g.48446885C>T GRCh38
NC_000015.9:g.48739082C>T , CM000677.1:g.48739082C>T GRCh37
NC_000015.8:g.46526374C>T NCBI36
NG_008805.2:g.203904G>A , LRG_778:g.203904G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.5672-63G>A ENSP00000453958.2:n.5672-63G>A
ENST00000674301.2:c.5672-63G>A ENSP00000501333.2:n.5672-63G>A
ENST00000684448.1:n.4346-63G>A
ENST00000316623.10:c.5672-63G>A MANE Select ENSP00000325527.5:n.5672-63G>A
ENST00000674301.1:c.671-63G>A ENSP00000501333.1:n.671-63G>A
ENST00000316623.9:c.5672-63G>A ENSP00000325527.5:n.5672-63G>A
ENST00000537463.6:c.*1435-63G>A ENSP00000440294.2:n.*1435-63G>A
ENST00000559133.5:c.979-63G>A
NM_000138.4:c.5672-63G>A , LRG_778t1:c.5672-63G>A NP_000129.3:n.5672-63G>A
NM_000138.5:c.5672-63G>A MANE Select NP_000129.3:n.5672-63G>A
Search 100 bp 5'
Search 100 bp 3'