Canonical Allele Identifier: CA487566703

Gene: FBLN5

Linked Data

• gnomAD v4: 14-91877556-G-A
• MyVariant Identifiers: chr14:g.92343900G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91877556G>A , CM000676.2:g.91877556G>A	GRCh38
NC_000014.8:g.92343900G>A , CM000676.1:g.92343900G>A	GRCh37
NC_000014.7:g.91413653G>A	NCBI36
NG_008254.1:g.75147C>T , LRG_364:g.75147C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557088.6:c.*1082C>T	ENSP00000451002.1:n.*1082C>T
ENST00000557570.2:c.948C>T	ENSP00000450787.2:p.Thr316=
ENST00000706675.1:n.931C>T
ENST00000706676.1:c.1290C>T	ENSP00000516492.1:p.Thr430=
ENST00000706677.1:c.1116C>T	ENSP00000516493.1:p.Thr372=
ENST00000706678.1:n.1036C>T
ENST00000706679.1:c.948C>T	ENSP00000516494.1:p.Thr316=
ENST00000706680.1:c.*959C>T	ENSP00000516495.1:n.*959C>T
ENST00000706681.1:c.*855C>T	ENSP00000516496.1:n.*855C>T
ENST00000342058.9:c.1116C>T MANE Select	ENSP00000345008.4:p.Thr372=
ENST00000267620.14:c.1239C>T	ENSP00000267620.10:p.Thr413=
ENST00000342058.8:c.1116C>T	ENSP00000345008.4:p.Thr372=
ENST00000554121.2:n.242C>T
ENST00000556154.5:c.1131C>T	ENSP00000451982.1:p.Thr377=
NM_006329.3:c.1116C>T , LRG_364t1:c.1116C>T	NP_006320.2:p.Thr372=
XM_005267267.3:c.1167C>T	XP_005267324.1:p.Thr389=
XM_011536356.1:c.1167C>T	XP_011534658.1:p.Thr389=
XM_011536357.1:c.1116C>T	XP_011534659.1:p.Thr372=
XM_011536358.1:c.948C>T	XP_011534660.1:p.Thr316=
XM_011536357.2:c.1116C>T	XP_011534659.1:p.Thr372=
XM_011536358.2:c.948C>T	XP_011534660.1:p.Thr316=
XM_017020929.2:c.948C>T	XP_016876418.1:p.Thr316=
NM_001384158.1:c.1239C>T	NP_001371087.1:p.Thr413=
NM_001384159.1:c.1167C>T	NP_001371088.1:p.Thr389=
NM_001384160.1:c.1116C>T	NP_001371089.1:p.Thr372=
NM_001384161.1:c.948C>T	NP_001371090.1:p.Thr316=
NM_001384162.1:c.948C>T	NP_001371091.1:p.Thr316=
NM_006329.4:c.1116C>T MANE Select	NP_006320.2:p.Thr372=