Canonical Allele Identifier: CA392335167
Gene: FBN1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr15:g.48726883G>C (hg19) chr15:g.48434686G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48434686G>C , CM000677.2:g.48434686G>C GRCh38
NC_000015.9:g.48726883G>C , CM000677.1:g.48726883G>C GRCh37
NC_000015.8:g.46514175G>C NCBI36
NG_008805.2:g.216103C>G , LRG_778:g.216103C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.6524C>G ENSP00000453958.2:p.Pro2175Arg
ENST00000674301.2:c.6524C>G ENSP00000501333.2:p.Pro2175Arg
ENST00000682170.1:n.133C>G
ENST00000316623.10:c.6524C>G MANE Select ENSP00000325527.5:p.Pro2175Arg
ENST00000674301.1:c.1523C>G ENSP00000501333.1:p.Pro508Arg
ENST00000316623.9:c.6524C>G ENSP00000325527.5:p.Pro2175Arg
ENST00000537463.6:c.*2287C>G ENSP00000440294.2:n.*2287C>G
ENST00000559133.5:c.1831C>G
NM_000138.4:c.6524C>G , LRG_778t1:c.6524C>G NP_000129.3:p.Pro2175Arg
NM_000138.5:c.6524C>G MANE Select NP_000129.3:p.Pro2175Arg
Search 100 bp 5'
Search 100 bp 3'