Canonical Allele Identifier: CA487566372

Gene: FBLN5

Linked Data

• gnomAD v4: 14-91870272-G-A
• MyVariant Identifiers: chr14:g.92336616G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91870272G>A , CM000676.2:g.91870272G>A	GRCh38
NC_000014.8:g.92336616G>A , CM000676.1:g.92336616G>A	GRCh37
NC_000014.7:g.91406369G>A	NCBI36
NG_008254.1:g.82431C>T , LRG_364:g.82431C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557088.6:c.*1265C>T	ENSP00000451002.1:n.*1265C>T
ENST00000557570.2:c.1131C>T	ENSP00000450787.2:p.Gly377=
ENST00000706675.1:n.1114C>T
ENST00000706676.1:c.1473C>T	ENSP00000516492.1:p.Gly491=
ENST00000706677.1:c.*83C>T	ENSP00000516493.1:n.*83C>T
ENST00000706678.1:n.1219C>T
ENST00000706679.1:c.1131C>T	ENSP00000516494.1:p.Gly377=
ENST00000706680.1:c.*1142C>T	ENSP00000516495.1:n.*1142C>T
ENST00000706681.1:c.*1038C>T	ENSP00000516496.1:n.*1038C>T
ENST00000342058.9:c.1299C>T MANE Select	ENSP00000345008.4:p.Gly433=
ENST00000267620.14:c.1422C>T	ENSP00000267620.10:p.Gly474=
ENST00000342058.8:c.1299C>T	ENSP00000345008.4:p.Gly433=
ENST00000554121.2:n.425C>T
ENST00000556154.5:c.1314C>T	ENSP00000451982.1:p.Gly438=
ENST00000556961.1:n.1434C>T
NM_006329.3:c.1299C>T , LRG_364t1:c.1299C>T	NP_006320.2:p.Gly433=
XM_005267267.3:c.1350C>T	XP_005267324.1:p.Gly450=
XM_011536356.1:c.*83C>T	XP_011534658.1:n.*83C>T
XM_011536357.1:c.*83C>T	XP_011534659.1:n.*83C>T
XM_011536358.1:c.*83C>T	XP_011534660.1:n.*83C>T
XM_011536357.2:c.*83C>T	XP_011534659.1:n.*83C>T
XM_011536358.2:c.*83C>T	XP_011534660.1:n.*83C>T
XM_017020929.2:c.1131C>T	XP_016876418.1:p.Gly377=
NM_001384158.1:c.1422C>T	NP_001371087.1:p.Gly474=
NM_001384159.1:c.1350C>T	NP_001371088.1:p.Gly450=
NM_001384160.1:c.*83C>T	NP_001371089.1:n.*83C>T
NM_001384161.1:c.*83C>T	NP_001371090.1:n.*83C>T
NM_001384162.1:c.1131C>T	NP_001371091.1:p.Gly377=
NM_006329.4:c.1299C>T MANE Select	NP_006320.2:p.Gly433=