Canonical Allele Identifier: CA392336241

Gene: FBN1

Linked Data

• gnomAD v4: 15-48436963-A-G
• MyVariant Identifiers: chr15:g.48729160A>G (hg19) ; chr15:g.48436963A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48436963A>G , CM000677.2:g.48436963A>G	GRCh38
NC_000015.9:g.48729160A>G , CM000677.1:g.48729160A>G	GRCh37
NC_000015.8:g.46516452A>G	NCBI36
NG_008805.2:g.213826T>C , LRG_778:g.213826T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.6494T>C	ENSP00000453958.2:p.Val2165Ala
ENST00000674301.2:c.6494T>C	ENSP00000501333.2:p.Val2165Ala
ENST00000682170.1:n.103T>C
ENST00000316623.10:c.6494T>C MANE Select	ENSP00000325527.5:p.Val2165Ala
ENST00000674301.1:c.1493T>C	ENSP00000501333.1:p.Val498Ala
ENST00000316623.9:c.6494T>C	ENSP00000325527.5:p.Val2165Ala
ENST00000537463.6:c.*2257T>C	ENSP00000440294.2:n.*2257T>C
ENST00000559133.5:c.1801T>C
NM_000138.4:c.6494T>C , LRG_778t1:c.6494T>C	NP_000129.3:p.Val2165Ala
NM_000138.5:c.6494T>C MANE Select	NP_000129.3:p.Val2165Ala