Canonical Allele Identifier: CA2175539731
Gene: FBN1 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48537950A= , CM000677.2:g.48537950A= GRCh38
NC_000015.9:g.48830147A= , CM000677.1:g.48830147A= GRCh37
NC_000015.8:g.46617439A= NCBI36
NG_008805.2:g.112839T= , LRG_778:g.112839T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.539-142T= ENSP00000453958.2:n.539-142T=
ENST00000674301.2:c.539-142T= ENSP00000501333.2:n.539-142T=
ENST00000316623.10:c.539-142T= MANE Select ENSP00000325527.5:n.539-142T=
ENST00000316623.9:c.539-142T= ENSP00000325527.5:n.539-142T=
ENST00000537463.6:c.539-142T= ENSP00000440294.2:n.539-142T=
NM_000138.4:c.539-142T= , LRG_778t1:c.539-142T= NP_000129.3:n.539-142T=
NM_000138.5:c.539-142T= MANE Select NP_000129.3:n.539-142T=
Search 100 bp 5'
Search 100 bp 3'