Canonical Allele Identifier: CA490015287
Gene: FBN1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr15:g.48766807T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48474610T>C , CM000677.2:g.48474610T>C GRCh38
NC_000015.9:g.48766807T>C , CM000677.1:g.48766807T>C GRCh37
NC_000015.8:g.46554099T>C NCBI36
NG_008805.2:g.176179A>G , LRG_778:g.176179A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.4005A>G ENSP00000453958.2:p.Lys1335=
ENST00000674301.2:c.4005A>G ENSP00000501333.2:p.Lys1335=
ENST00000684448.1:n.2679A>G
ENST00000316623.10:c.4005A>G MANE Select ENSP00000325527.5:p.Lys1335=
ENST00000316623.9:c.4005A>G ENSP00000325527.5:p.Lys1335=
ENST00000537463.6:c.677A>G ENSP00000440294.2:p.Asn226Ser
NM_000138.4:c.4005A>G , LRG_778t1:c.4005A>G NP_000129.3:p.Lys1335=
NM_000138.5:c.4005A>G MANE Select NP_000129.3:p.Lys1335=