Canonical Allele Identifier: CA490022522
Gene: FBN1 HGNC NCBI

Linked Data

gnomAD v4: 15-48445443-T-A
MyVariant Identifiers: chr15:g.48737640T>A (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48445443T>A , CM000677.2:g.48445443T>A GRCh38
NC_000015.9:g.48737640T>A , CM000677.1:g.48737640T>A GRCh37
NC_000015.8:g.46524932T>A NCBI36
NG_008805.2:g.205346A>T , LRG_778:g.205346A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.5850A>T ENSP00000453958.2:p.Thr1950=
ENST00000674301.2:c.5850A>T ENSP00000501333.2:p.Thr1950=
ENST00000684448.1:n.4524A>T
ENST00000316623.10:c.5850A>T MANE Select ENSP00000325527.5:p.Thr1950=
ENST00000674301.1:c.849A>T ENSP00000501333.1:p.Thr283=
ENST00000316623.9:c.5850A>T ENSP00000325527.5:p.Thr1950=
ENST00000537463.6:c.*1613A>T ENSP00000440294.2:n.*1613A>T
ENST00000559133.5:c.1157A>T
NM_000138.4:c.5850A>T , LRG_778t1:c.5850A>T NP_000129.3:p.Thr1950=
NM_000138.5:c.5850A>T MANE Select NP_000129.3:p.Thr1950=
Search 100 bp 5'
Search 100 bp 3'