Canonical Allele Identifier: CA015630

Gene: FBN1

Linked Data

• ClinVar Variation Id: 200059
• ClinVar RCV Id: RCV000181538 ; RCV000804754
• dbSNP Id: rs368979510
• MyVariant Identifiers: chr15:g.48755406G>C (hg19) ; chr15:g.48463209G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48463209G>C , CM000677.2:g.48463209G>C	GRCh38
NC_000015.9:g.48755406G>C , CM000677.1:g.48755406G>C	GRCh37
NC_000015.8:g.46542698G>C	NCBI36
NG_008805.2:g.187580C>G , LRG_778:g.187580C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5097C>G	ENSP00000453958.2:p.Tyr1699Ter
ENST00000674301.2:c.5097C>G	ENSP00000501333.2:p.Tyr1699Ter
ENST00000684448.1:n.3771C>G
ENST00000316623.10:c.5097C>G MANE Select	ENSP00000325527.5:p.Tyr1699Ter
ENST00000674301.1:c.96C>G	ENSP00000501333.1:p.Tyr32Ter
ENST00000316623.9:c.5097C>G	ENSP00000325527.5:p.Tyr1699Ter
ENST00000537463.6:c.*860C>G	ENSP00000440294.2:n.*860C>G
ENST00000559133.5:c.404C>G
NM_000138.4:c.5097C>G , LRG_778t1:c.5097C>G	NP_000129.3:p.Tyr1699Ter
NM_000138.5:c.5097C>G MANE Select	NP_000129.3:p.Tyr1699Ter