Canonical Allele Identifier: CA392324503
Gene: FBN1 HGNC NCBI

Linked Data

dbSNP Id: rs2043497820
MyVariant Identifiers: chr15:g.48777637C>T (hg19) chr15:g.48485440C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48485440C>T , CM000677.2:g.48485440C>T GRCh38
NC_000015.9:g.48777637C>T , CM000677.1:g.48777637C>T GRCh37
NC_000015.8:g.46564929C>T NCBI36
NG_008805.2:g.165349G>A , LRG_778:g.165349G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.3646G>A ENSP00000453958.2:p.Glu1216Lys
ENST00000674301.2:c.3646G>A ENSP00000501333.2:p.Glu1216Lys
ENST00000684448.1:n.2320G>A
ENST00000316623.10:c.3646G>A MANE Select ENSP00000325527.5:p.Glu1216Lys
ENST00000316623.9:c.3646G>A ENSP00000325527.5:p.Glu1216Lys
ENST00000537463.6:c.637-10790G>A ENSP00000440294.2:n.637-10790G>A
NM_000138.4:c.3646G>A , LRG_778t1:c.3646G>A NP_000129.3:p.Glu1216Lys
NM_000138.5:c.3646G>A MANE Select NP_000129.3:p.Glu1216Lys
Search 100 bp 5'
Search 100 bp 3'