Canonical Allele Identifier: CA390639605

Gene: FBLN5

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91936950C>G , CM000676.2:g.91936950C>G	GRCh38
NC_000014.8:g.92403294C>G , CM000676.1:g.92403294C>G	GRCh37
NC_000014.7:g.91473047C>G	NCBI36
NG_008254.1:g.15753G>C , LRG_364:g.15753G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_006329.4:c.376G>C MANE Select	NP_006320.2:p.Val126Leu
ENST00000342058.9:c.376G>C MANE Select	ENSP00000345008.4:p.Val126Leu
NM_001384158.1:c.499G>C	NP_001371087.1:p.Val167Leu
NM_001384159.1:c.427G>C	NP_001371088.1:p.Val143Leu
NM_001384160.1:c.376G>C	NP_001371089.1:p.Val126Leu
NM_001384161.1:c.208G>C	NP_001371090.1:p.Val70Leu
NM_001384162.1:c.208G>C	NP_001371091.1:p.Val70Leu
NM_006329.3:c.376G>C , LRG_364t1:c.376G>C	NP_006320.2:p.Val126Leu
ENST00000267620.14:c.499G>C	ENSP00000267620.10:p.Val167Leu
ENST00000342058.8:c.376G>C	ENSP00000345008.4:p.Val126Leu
ENST00000556154.5:c.391G>C	ENSP00000451982.1:p.Val131Leu
ENST00000557088.5:c.*342G>C	ENSP00000451002.1:n.*342G>C
ENST00000557088.6:c.*342G>C	ENSP00000451002.1:n.*342G>C
ENST00000557570.2:c.208G>C	ENSP00000450787.2:p.Val70Leu
ENST00000706676.1:c.550G>C	ENSP00000516492.1:p.Val184Leu
ENST00000706677.1:c.376G>C	ENSP00000516493.1:p.Val126Leu
ENST00000706679.1:c.208G>C	ENSP00000516494.1:p.Val70Leu
ENST00000706680.1:c.*342G>C	ENSP00000516495.1:n.*342G>C
ENST00000706681.1:c.*118+182G>C	ENSP00000516496.1:n.*118+182G>C
XM_005267267.3:c.427G>C	XP_005267324.1:p.Val143Leu
XM_011536356.1:c.427G>C	XP_011534658.1:p.Val143Leu
XM_011536357.1:c.376G>C	XP_011534659.1:p.Val126Leu
XM_011536357.2:c.376G>C	XP_011534659.1:p.Val126Leu
XM_011536358.1:c.208G>C	XP_011534660.1:p.Val70Leu
XM_011536358.2:c.208G>C	XP_011534660.1:p.Val70Leu
XM_017020929.2:c.208G>C	XP_016876418.1:p.Val70Leu