Canonical Allele Identifier: CA490028555
Gene: FBN1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr15:g.48813010A>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48520813A>G , CM000677.2:g.48520813A>G GRCh38
NC_000015.9:g.48813010A>G , CM000677.1:g.48813010A>G GRCh37
NC_000015.8:g.46600302A>G NCBI36
NG_008805.2:g.129976T>C , LRG_778:g.129976T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.993T>C ENSP00000453958.2:p.Val331=
ENST00000674301.2:c.993T>C ENSP00000501333.2:p.Val331=
ENST00000316623.10:c.993T>C MANE Select ENSP00000325527.5:p.Val331=
ENST00000316623.9:c.993T>C ENSP00000325527.5:p.Val331=
ENST00000537463.6:c.636+16898T>C ENSP00000440294.2:n.636+16898T>C
NM_000138.4:c.993T>C , LRG_778t1:c.993T>C NP_000129.3:p.Val331=
NM_000138.5:c.993T>C MANE Select NP_000129.3:p.Val331=
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