Canonical Allele Identifier: CA490016960
Gene: FBN1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr15:g.48776037A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48483840A>C , CM000677.2:g.48483840A>C GRCh38
NC_000015.9:g.48776037A>C , CM000677.1:g.48776037A>C GRCh37
NC_000015.8:g.46563329A>C NCBI36
NG_008805.2:g.166949T>G , LRG_778:g.166949T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000559133.6:c.3816T>G ENSP00000453958.2:p.Ser1272=
ENST00000674301.2:c.3816T>G ENSP00000501333.2:p.Ser1272=
ENST00000684448.1:n.2490T>G
ENST00000316623.10:c.3816T>G MANE Select ENSP00000325527.5:p.Ser1272=
ENST00000316623.9:c.3816T>G ENSP00000325527.5:p.Ser1272=
ENST00000537463.6:c.637-9190T>G ENSP00000440294.2:n.637-9190T>G
NM_000138.4:c.3816T>G , LRG_778t1:c.3816T>G NP_000129.3:p.Ser1272=
NM_000138.5:c.3816T>G MANE Select NP_000129.3:p.Ser1272=