Canonical Allele Identifier: CA390640435

Gene: FBLN5

Linked Data

• MyVariant Identifiers: chr14:g.92343839A>T (hg19) ; chr14:g.91877495A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91877495A>T , CM000676.2:g.91877495A>T	GRCh38
NC_000014.8:g.92343839A>T , CM000676.1:g.92343839A>T	GRCh37
NC_000014.7:g.91413592A>T	NCBI36
NG_008254.1:g.75208T>A , LRG_364:g.75208T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557088.6:c.*1143T>A	ENSP00000451002.1:n.*1143T>A
ENST00000557570.2:c.1009T>A	ENSP00000450787.2:p.Tyr337Asn
ENST00000706675.1:n.992T>A
ENST00000706676.1:c.1351T>A	ENSP00000516492.1:p.Tyr451Asn
ENST00000706677.1:c.1177T>A	ENSP00000516493.1:p.Tyr393Asn
ENST00000706678.1:n.1097T>A
ENST00000706679.1:c.1009T>A	ENSP00000516494.1:p.Tyr337Asn
ENST00000706680.1:c.*1020T>A	ENSP00000516495.1:n.*1020T>A
ENST00000706681.1:c.*916T>A	ENSP00000516496.1:n.*916T>A
ENST00000342058.9:c.1177T>A MANE Select	ENSP00000345008.4:p.Tyr393Asn
ENST00000267620.14:c.1300T>A	ENSP00000267620.10:p.Tyr434Asn
ENST00000342058.8:c.1177T>A	ENSP00000345008.4:p.Tyr393Asn
ENST00000554121.2:n.303T>A
ENST00000556154.5:c.1192T>A	ENSP00000451982.1:p.Tyr398Asn
NM_006329.3:c.1177T>A , LRG_364t1:c.1177T>A	NP_006320.2:p.Tyr393Asn
XM_005267267.3:c.1228T>A	XP_005267324.1:p.Tyr410Asn
XM_011536356.1:c.1228T>A	XP_011534658.1:p.Tyr410Asn
XM_011536357.1:c.1177T>A	XP_011534659.1:p.Tyr393Asn
XM_011536358.1:c.1009T>A	XP_011534660.1:p.Tyr337Asn
XM_011536357.2:c.1177T>A	XP_011534659.1:p.Tyr393Asn
XM_011536358.2:c.1009T>A	XP_011534660.1:p.Tyr337Asn
XM_017020929.2:c.1009T>A	XP_016876418.1:p.Tyr337Asn
NM_001384158.1:c.1300T>A	NP_001371087.1:p.Tyr434Asn
NM_001384159.1:c.1228T>A	NP_001371088.1:p.Tyr410Asn
NM_001384160.1:c.1177T>A	NP_001371089.1:p.Tyr393Asn
NM_001384161.1:c.1009T>A	NP_001371090.1:p.Tyr337Asn
NM_001384162.1:c.1009T>A	NP_001371091.1:p.Tyr337Asn
NM_006329.4:c.1177T>A MANE Select	NP_006320.2:p.Tyr393Asn