Canonical Allele Identifier: CA392339932
Gene: FBN1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr15:g.48737579A>T (hg19) chr15:g.48445382A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48445382A>T , CM000677.2:g.48445382A>T GRCh38
NC_000015.9:g.48737579A>T , CM000677.1:g.48737579A>T GRCh37
NC_000015.8:g.46524871A>T NCBI36
NG_008805.2:g.205407T>A , LRG_778:g.205407T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.5911T>A ENSP00000453958.2:p.Cys1971Ser
ENST00000674301.2:c.5911T>A ENSP00000501333.2:p.Cys1971Ser
ENST00000684448.1:n.4585T>A
ENST00000316623.10:c.5911T>A MANE Select ENSP00000325527.5:p.Cys1971Ser
ENST00000674301.1:c.910T>A ENSP00000501333.1:p.Cys304Ser
ENST00000316623.9:c.5911T>A ENSP00000325527.5:p.Cys1971Ser
ENST00000537463.6:c.*1674T>A ENSP00000440294.2:n.*1674T>A
ENST00000559133.5:c.1218T>A
ENST00000560820.1:n.31T>A
NM_000138.4:c.5911T>A , LRG_778t1:c.5911T>A NP_000129.3:p.Cys1971Ser
NM_000138.5:c.5911T>A MANE Select NP_000129.3:p.Cys1971Ser
Search 100 bp 5'
Search 100 bp 3'