Canonical Allele Identifier: CA390641010

Gene: FBLN5

Linked Data

• COSMIC: COSM3498946
• MyVariant Identifiers: chr14:g.92343989C>G (hg19) ; chr14:g.91877645C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91877645C>G , CM000676.2:g.91877645C>G	GRCh38
NC_000014.8:g.92343989C>G , CM000676.1:g.92343989C>G	GRCh37
NC_000014.7:g.91413742C>G	NCBI36
NG_008254.1:g.75058G>C , LRG_364:g.75058G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557088.6:c.*993G>C	ENSP00000451002.1:n.*993G>C
ENST00000557570.2:c.859G>C	ENSP00000450787.2:p.Asp287His
ENST00000706675.1:n.842G>C
ENST00000706676.1:c.1201G>C	ENSP00000516492.1:p.Asp401His
ENST00000706677.1:c.1027G>C	ENSP00000516493.1:p.Asp343His
ENST00000706678.1:n.947G>C
ENST00000706679.1:c.859G>C	ENSP00000516494.1:p.Asp287His
ENST00000706680.1:c.*870G>C	ENSP00000516495.1:n.*870G>C
ENST00000706681.1:c.*766G>C	ENSP00000516496.1:n.*766G>C
ENST00000342058.9:c.1027G>C MANE Select	ENSP00000345008.4:p.Asp343His
ENST00000267620.14:c.1150G>C	ENSP00000267620.10:p.Asp384His
ENST00000342058.8:c.1027G>C	ENSP00000345008.4:p.Asp343His
ENST00000554121.2:n.153G>C
ENST00000556154.5:c.1042G>C	ENSP00000451982.1:p.Asp348His
NM_006329.3:c.1027G>C , LRG_364t1:c.1027G>C	NP_006320.2:p.Asp343His
XM_005267267.3:c.1078G>C	XP_005267324.1:p.Asp360His
XM_011536356.1:c.1078G>C	XP_011534658.1:p.Asp360His
XM_011536357.1:c.1027G>C	XP_011534659.1:p.Asp343His
XM_011536358.1:c.859G>C	XP_011534660.1:p.Asp287His
XM_011536357.2:c.1027G>C	XP_011534659.1:p.Asp343His
XM_011536358.2:c.859G>C	XP_011534660.1:p.Asp287His
XM_017020929.2:c.859G>C	XP_016876418.1:p.Asp287His
NM_001384158.1:c.1150G>C	NP_001371087.1:p.Asp384His
NM_001384159.1:c.1078G>C	NP_001371088.1:p.Asp360His
NM_001384160.1:c.1027G>C	NP_001371089.1:p.Asp343His
NM_001384161.1:c.859G>C	NP_001371090.1:p.Asp287His
NM_001384162.1:c.859G>C	NP_001371091.1:p.Asp287His
NM_006329.4:c.1027G>C MANE Select	NP_006320.2:p.Asp343His