Canonical Allele Identifier: CA390640501

Gene: FBLN5

Linked Data

• MyVariant Identifiers: chr14:g.92343868A>C (hg19) ; chr14:g.91877524A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91877524A>C , CM000676.2:g.91877524A>C	GRCh38
NC_000014.8:g.92343868A>C , CM000676.1:g.92343868A>C	GRCh37
NC_000014.7:g.91413621A>C	NCBI36
NG_008254.1:g.75179T>G , LRG_364:g.75179T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557088.6:c.*1114T>G	ENSP00000451002.1:n.*1114T>G
ENST00000557570.2:c.980T>G	ENSP00000450787.2:p.Ile327Ser
ENST00000706675.1:n.963T>G
ENST00000706676.1:c.1322T>G	ENSP00000516492.1:p.Ile441Ser
ENST00000706677.1:c.1148T>G	ENSP00000516493.1:p.Ile383Ser
ENST00000706678.1:n.1068T>G
ENST00000706679.1:c.980T>G	ENSP00000516494.1:p.Ile327Ser
ENST00000706680.1:c.*991T>G	ENSP00000516495.1:n.*991T>G
ENST00000706681.1:c.*887T>G	ENSP00000516496.1:n.*887T>G
ENST00000342058.9:c.1148T>G MANE Select	ENSP00000345008.4:p.Ile383Ser
ENST00000267620.14:c.1271T>G	ENSP00000267620.10:p.Ile424Ser
ENST00000342058.8:c.1148T>G	ENSP00000345008.4:p.Ile383Ser
ENST00000554121.2:n.274T>G
ENST00000556154.5:c.1163T>G	ENSP00000451982.1:p.Ile388Ser
NM_006329.3:c.1148T>G , LRG_364t1:c.1148T>G	NP_006320.2:p.Ile383Ser
XM_005267267.3:c.1199T>G	XP_005267324.1:p.Ile400Ser
XM_011536356.1:c.1199T>G	XP_011534658.1:p.Ile400Ser
XM_011536357.1:c.1148T>G	XP_011534659.1:p.Ile383Ser
XM_011536358.1:c.980T>G	XP_011534660.1:p.Ile327Ser
XM_011536357.2:c.1148T>G	XP_011534659.1:p.Ile383Ser
XM_011536358.2:c.980T>G	XP_011534660.1:p.Ile327Ser
XM_017020929.2:c.980T>G	XP_016876418.1:p.Ile327Ser
NM_001384158.1:c.1271T>G	NP_001371087.1:p.Ile424Ser
NM_001384159.1:c.1199T>G	NP_001371088.1:p.Ile400Ser
NM_001384160.1:c.1148T>G	NP_001371089.1:p.Ile383Ser
NM_001384161.1:c.980T>G	NP_001371090.1:p.Ile327Ser
NM_001384162.1:c.980T>G	NP_001371091.1:p.Ile327Ser
NM_006329.4:c.1148T>G MANE Select	NP_006320.2:p.Ile383Ser