Canonical Allele Identifier: CA390640751

Gene: FBLN5

Linked Data

• MyVariant Identifiers: chr14:g.92343931G>T (hg19) ; chr14:g.91877587G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91877587G>T , CM000676.2:g.91877587G>T	GRCh38
NC_000014.8:g.92343931G>T , CM000676.1:g.92343931G>T	GRCh37
NC_000014.7:g.91413684G>T	NCBI36
NG_008254.1:g.75116C>A , LRG_364:g.75116C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557088.6:c.*1051C>A	ENSP00000451002.1:n.*1051C>A
ENST00000557570.2:c.917C>A	ENSP00000450787.2:p.Pro306His
ENST00000706675.1:n.900C>A
ENST00000706676.1:c.1259C>A	ENSP00000516492.1:p.Pro420His
ENST00000706677.1:c.1085C>A	ENSP00000516493.1:p.Pro362His
ENST00000706678.1:n.1005C>A
ENST00000706679.1:c.917C>A	ENSP00000516494.1:p.Pro306His
ENST00000706680.1:c.*928C>A	ENSP00000516495.1:n.*928C>A
ENST00000706681.1:c.*824C>A	ENSP00000516496.1:n.*824C>A
ENST00000342058.9:c.1085C>A MANE Select	ENSP00000345008.4:p.Pro362His
ENST00000267620.14:c.1208C>A	ENSP00000267620.10:p.Pro403His
ENST00000342058.8:c.1085C>A	ENSP00000345008.4:p.Pro362His
ENST00000554121.2:n.211C>A
ENST00000556154.5:c.1100C>A	ENSP00000451982.1:p.Pro367His
NM_006329.3:c.1085C>A , LRG_364t1:c.1085C>A	NP_006320.2:p.Pro362His
XM_005267267.3:c.1136C>A	XP_005267324.1:p.Pro379His
XM_011536356.1:c.1136C>A	XP_011534658.1:p.Pro379His
XM_011536357.1:c.1085C>A	XP_011534659.1:p.Pro362His
XM_011536358.1:c.917C>A	XP_011534660.1:p.Pro306His
XM_011536357.2:c.1085C>A	XP_011534659.1:p.Pro362His
XM_011536358.2:c.917C>A	XP_011534660.1:p.Pro306His
XM_017020929.2:c.917C>A	XP_016876418.1:p.Pro306His
NM_001384158.1:c.1208C>A	NP_001371087.1:p.Pro403His
NM_001384159.1:c.1136C>A	NP_001371088.1:p.Pro379His
NM_001384160.1:c.1085C>A	NP_001371089.1:p.Pro362His
NM_001384161.1:c.917C>A	NP_001371090.1:p.Pro306His
NM_001384162.1:c.917C>A	NP_001371091.1:p.Pro306His
NM_006329.4:c.1085C>A MANE Select	NP_006320.2:p.Pro362His