Canonical Allele Identifier: CA10636134
Community Standard Title: NM_000138.5(FBN1):c.*1580G>A
Gene: FBN1 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48409410C>T , CM000677.2:g.48409410C>T GRCh38
NC_000015.9:g.48701607C>T , CM000677.1:g.48701607C>T GRCh37
NC_000015.8:g.46488899C>T NCBI36
NG_008805.2:g.241379G>A , LRG_778:g.241379G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000138.5:c.*1580G>A MANE Select NP_000129.3:n.*1580G>A
ENST00000316623.10:c.*1580G>A MANE Select ENSP00000325527.5:n.*1580G>A
NM_000138.4:c.*1580G>A , LRG_778t1:c.*1580G>A NP_000129.3:n.*1580G>A
ENST00000316623.9:c.*1580G>A ENSP00000325527.5:n.*1580G>A
ENST00000682170.1:n.4377G>A
ENST00000682767.1:n.3493G>A
Search 100 bp 5'
Search 100 bp 3'