Canonical Allele Identifier: CA392317700
Gene: FBN1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr15:g.48764793A>C (hg19) chr15:g.48472596A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48472596A>C , CM000677.2:g.48472596A>C GRCh38
NC_000015.9:g.48764793A>C , CM000677.1:g.48764793A>C GRCh37
NC_000015.8:g.46552085A>C NCBI36
NG_008805.2:g.178193T>G , LRG_778:g.178193T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.4291T>G ENSP00000453958.2:p.Cys1431Gly
ENST00000674301.2:c.4291T>G ENSP00000501333.2:p.Cys1431Gly
ENST00000683268.1:n.258T>G
ENST00000684448.1:n.2965T>G
ENST00000316623.10:c.4291T>G MANE Select ENSP00000325527.5:p.Cys1431Gly
ENST00000316623.9:c.4291T>G ENSP00000325527.5:p.Cys1431Gly
ENST00000537463.6:c.*54T>G ENSP00000440294.2:n.*54T>G
NM_000138.4:c.4291T>G , LRG_778t1:c.4291T>G NP_000129.3:p.Cys1431Gly
NM_000138.5:c.4291T>G MANE Select NP_000129.3:p.Cys1431Gly
Search 100 bp 5'
Search 100 bp 3'