Canonical Allele Identifier: CA392347318
Gene: FBN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48520704G>A , CM000677.2:g.48520704G>A GRCh38
NC_000015.9:g.48812901G>A , CM000677.1:g.48812901G>A GRCh37
NC_000015.8:g.46600193G>A NCBI36
NG_008805.2:g.130085C>T , LRG_778:g.130085C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.1102C>T ENSP00000453958.2:p.Pro368Ser
ENST00000674301.2:c.1102C>T ENSP00000501333.2:p.Pro368Ser
ENST00000316623.10:c.1102C>T MANE Select ENSP00000325527.5:p.Pro368Ser
ENST00000316623.9:c.1102C>T ENSP00000325527.5:p.Pro368Ser
ENST00000537463.6:c.636+17007C>T ENSP00000440294.2:n.636+17007C>T
NM_000138.4:c.1102C>T , LRG_778t1:c.1102C>T NP_000129.3:p.Pro368Ser
NM_000138.5:c.1102C>T MANE Select NP_000129.3:p.Pro368Ser