Canonical Allele Identifier: CA390640923

Gene: FBLN5

Linked Data

• MyVariant Identifiers: chr14:g.92343970A>T (hg19) ; chr14:g.91877626A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91877626A>T , CM000676.2:g.91877626A>T	GRCh38
NC_000014.8:g.92343970A>T , CM000676.1:g.92343970A>T	GRCh37
NC_000014.7:g.91413723A>T	NCBI36
NG_008254.1:g.75077T>A , LRG_364:g.75077T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557088.6:c.*1012T>A	ENSP00000451002.1:n.*1012T>A
ENST00000557570.2:c.878T>A	ENSP00000450787.2:p.Leu293Ter
ENST00000706675.1:n.861T>A
ENST00000706676.1:c.1220T>A	ENSP00000516492.1:p.Leu407Ter
ENST00000706677.1:c.1046T>A	ENSP00000516493.1:p.Leu349Ter
ENST00000706678.1:n.966T>A
ENST00000706679.1:c.878T>A	ENSP00000516494.1:p.Leu293Ter
ENST00000706680.1:c.*889T>A	ENSP00000516495.1:n.*889T>A
ENST00000706681.1:c.*785T>A	ENSP00000516496.1:n.*785T>A
ENST00000342058.9:c.1046T>A MANE Select	ENSP00000345008.4:p.Leu349Ter
ENST00000267620.14:c.1169T>A	ENSP00000267620.10:p.Leu390Ter
ENST00000342058.8:c.1046T>A	ENSP00000345008.4:p.Leu349Ter
ENST00000554121.2:n.172T>A
ENST00000556154.5:c.1061T>A	ENSP00000451982.1:p.Leu354Ter
NM_006329.3:c.1046T>A , LRG_364t1:c.1046T>A	NP_006320.2:p.Leu349Ter
XM_005267267.3:c.1097T>A	XP_005267324.1:p.Leu366Ter
XM_011536356.1:c.1097T>A	XP_011534658.1:p.Leu366Ter
XM_011536357.1:c.1046T>A	XP_011534659.1:p.Leu349Ter
XM_011536358.1:c.878T>A	XP_011534660.1:p.Leu293Ter
XM_011536357.2:c.1046T>A	XP_011534659.1:p.Leu349Ter
XM_011536358.2:c.878T>A	XP_011534660.1:p.Leu293Ter
XM_017020929.2:c.878T>A	XP_016876418.1:p.Leu293Ter
NM_001384158.1:c.1169T>A	NP_001371087.1:p.Leu390Ter
NM_001384159.1:c.1097T>A	NP_001371088.1:p.Leu366Ter
NM_001384160.1:c.1046T>A	NP_001371089.1:p.Leu349Ter
NM_001384161.1:c.878T>A	NP_001371090.1:p.Leu293Ter
NM_001384162.1:c.878T>A	NP_001371091.1:p.Leu293Ter
NM_006329.4:c.1046T>A MANE Select	NP_006320.2:p.Leu349Ter