Canonical Allele Identifier: CA392350046

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48756156T>A (hg19) ; chr15:g.48463959T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48463959T>A , CM000677.2:g.48463959T>A	GRCh38
NC_000015.9:g.48756156T>A , CM000677.1:g.48756156T>A	GRCh37
NC_000015.8:g.46543448T>A	NCBI36
NG_008805.2:g.186830A>T , LRG_778:g.186830A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5005A>T	ENSP00000453958.2:p.Asn1669Tyr
ENST00000674301.2:c.5005A>T	ENSP00000501333.2:p.Asn1669Tyr
ENST00000684448.1:n.3679A>T
ENST00000316623.10:c.5005A>T MANE Select	ENSP00000325527.5:p.Asn1669Tyr
ENST00000674301.1:c.4A>T	ENSP00000501333.1:p.Asn2Tyr
ENST00000316623.9:c.5005A>T	ENSP00000325527.5:p.Asn1669Tyr
ENST00000537463.6:c.*768A>T	ENSP00000440294.2:n.*768A>T
ENST00000559133.5:c.312A>T
NM_000138.4:c.5005A>T , LRG_778t1:c.5005A>T	NP_000129.3:p.Asn1669Tyr
NM_000138.5:c.5005A>T MANE Select	NP_000129.3:p.Asn1669Tyr