Canonical Allele Identifier: CA390642687

Gene: FBLN5

Linked Data

• MyVariant Identifiers: chr14:g.92353609T>G (hg19) ; chr14:g.91887265T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91887265T>G , CM000676.2:g.91887265T>G	GRCh38
NC_000014.8:g.92353609T>G , CM000676.1:g.92353609T>G	GRCh37
NC_000014.7:g.91423362T>G	NCBI36
NG_008254.1:g.65438A>C , LRG_364:g.65438A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000557088.6:c.*633A>C	ENSP00000451002.1:n.*633A>C
ENST00000557570.2:c.499A>C	ENSP00000450787.2:p.Asn167His
ENST00000706676.1:c.841A>C	ENSP00000516492.1:p.Asn281His
ENST00000706677.1:c.667A>C	ENSP00000516493.1:p.Asn223His
ENST00000706678.1:n.587A>C
ENST00000706679.1:c.499A>C	ENSP00000516494.1:p.Asn167His
ENST00000706680.1:c.*510A>C	ENSP00000516495.1:n.*510A>C
ENST00000706681.1:c.*406A>C	ENSP00000516496.1:n.*406A>C
ENST00000342058.9:c.667A>C MANE Select	ENSP00000345008.4:p.Asn223His
ENST00000267620.14:c.790A>C	ENSP00000267620.10:p.Asn264His
ENST00000342058.8:c.667A>C	ENSP00000345008.4:p.Asn223His
ENST00000556154.5:c.682A>C	ENSP00000451982.1:p.Asn228His
NM_006329.3:c.667A>C , LRG_364t1:c.667A>C	NP_006320.2:p.Asn223His
XM_005267267.3:c.718A>C	XP_005267324.1:p.Asn240His
XM_011536356.1:c.718A>C	XP_011534658.1:p.Asn240His
XM_011536357.1:c.667A>C	XP_011534659.1:p.Asn223His
XM_011536358.1:c.499A>C	XP_011534660.1:p.Asn167His
XM_011536357.2:c.667A>C	XP_011534659.1:p.Asn223His
XM_011536358.2:c.499A>C	XP_011534660.1:p.Asn167His
XM_017020929.2:c.499A>C	XP_016876418.1:p.Asn167His
NM_001384158.1:c.790A>C	NP_001371087.1:p.Asn264His
NM_001384159.1:c.718A>C	NP_001371088.1:p.Asn240His
NM_001384160.1:c.667A>C	NP_001371089.1:p.Asn223His
NM_001384161.1:c.499A>C	NP_001371090.1:p.Asn167His
NM_001384162.1:c.499A>C	NP_001371091.1:p.Asn167His
NM_006329.4:c.667A>C MANE Select	NP_006320.2:p.Asn223His