Canonical Allele Identifier: CA490022742
Gene: FBN1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr15:g.48737685T>C (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48445488T>C , CM000677.2:g.48445488T>C GRCh38
NC_000015.9:g.48737685T>C , CM000677.1:g.48737685T>C GRCh37
NC_000015.8:g.46524977T>C NCBI36
NG_008805.2:g.205301A>G , LRG_778:g.205301A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.5805A>G ENSP00000453958.2:p.Ala1935=
ENST00000674301.2:c.5805A>G ENSP00000501333.2:p.Ala1935=
ENST00000684448.1:n.4479A>G
ENST00000316623.10:c.5805A>G MANE Select ENSP00000325527.5:p.Ala1935=
ENST00000674301.1:c.804A>G ENSP00000501333.1:p.Ala268=
ENST00000316623.9:c.5805A>G ENSP00000325527.5:p.Ala1935=
ENST00000537463.6:c.*1568A>G ENSP00000440294.2:n.*1568A>G
ENST00000559133.5:c.1112A>G
NM_000138.4:c.5805A>G , LRG_778t1:c.5805A>G NP_000129.3:p.Ala1935=
NM_000138.5:c.5805A>G MANE Select NP_000129.3:p.Ala1935=
Search 100 bp 5'
Search 100 bp 3'