Canonical Allele Identifier: CA490023642
Gene: FBN1 HGNC NCBI

Linked Data

dbSNP Id: rs2141306527
MyVariant Identifiers: chr15:g.48789563A>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48497366A>C , CM000677.2:g.48497366A>C GRCh38
NC_000015.9:g.48789563A>C , CM000677.1:g.48789563A>C GRCh37
NC_000015.8:g.46576855A>C NCBI36
NG_008805.2:g.153423T>G , LRG_778:g.153423T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.2193T>G ENSP00000453958.2:p.Pro731=
ENST00000674301.2:c.2193T>G ENSP00000501333.2:p.Pro731=
ENST00000684448.1:n.867T>G
ENST00000316623.10:c.2193T>G MANE Select ENSP00000325527.5:p.Pro731=
ENST00000316623.9:c.2193T>G ENSP00000325527.5:p.Pro731=
ENST00000537463.6:c.637-22716T>G ENSP00000440294.2:n.637-22716T>G
NM_000138.4:c.2193T>G , LRG_778t1:c.2193T>G NP_000129.3:p.Pro731=
NM_000138.5:c.2193T>G MANE Select NP_000129.3:p.Pro731=
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