Canonical Allele Identifier: CA390639418

Gene: FBLN5

Linked Data

• gnomAD v4: 14-91870348-C-G
• MyVariant Identifiers: chr14:g.92336692C>G (hg19) ; chr14:g.91870348C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91870348C>G , CM000676.2:g.91870348C>G	GRCh38
NC_000014.8:g.92336692C>G , CM000676.1:g.92336692C>G	GRCh37
NC_000014.7:g.91406445C>G	NCBI36
NG_008254.1:g.82355G>C , LRG_364:g.82355G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000557088.6:c.*1189G>C	ENSP00000451002.1:n.*1189G>C
ENST00000557570.2:c.1055G>C	ENSP00000450787.2:p.Arg352Pro
ENST00000706675.1:n.1038G>C
ENST00000706676.1:c.1397G>C	ENSP00000516492.1:p.Arg466Pro
ENST00000706677.1:c.*7G>C	ENSP00000516493.1:n.*7G>C
ENST00000706678.1:n.1143G>C
ENST00000706679.1:c.1055G>C	ENSP00000516494.1:p.Arg352Pro
ENST00000706680.1:c.*1066G>C	ENSP00000516495.1:n.*1066G>C
ENST00000706681.1:c.*962G>C	ENSP00000516496.1:n.*962G>C
ENST00000342058.9:c.1223G>C MANE Select	ENSP00000345008.4:p.Arg408Pro
ENST00000267620.14:c.1346G>C	ENSP00000267620.10:p.Arg449Pro
ENST00000342058.8:c.1223G>C	ENSP00000345008.4:p.Arg408Pro
ENST00000554121.2:n.349G>C
ENST00000556154.5:c.1238G>C	ENSP00000451982.1:p.Arg413Pro
ENST00000556961.1:n.1358G>C
NM_006329.3:c.1223G>C , LRG_364t1:c.1223G>C	NP_006320.2:p.Arg408Pro
XM_005267267.3:c.1274G>C	XP_005267324.1:p.Arg425Pro
XM_011536356.1:c.*7G>C	XP_011534658.1:n.*7G>C
XM_011536357.1:c.*7G>C	XP_011534659.1:n.*7G>C
XM_011536358.1:c.*7G>C	XP_011534660.1:n.*7G>C
XM_011536357.2:c.*7G>C	XP_011534659.1:n.*7G>C
XM_011536358.2:c.*7G>C	XP_011534660.1:n.*7G>C
XM_017020929.2:c.1055G>C	XP_016876418.1:p.Arg352Pro
NM_001384158.1:c.1346G>C	NP_001371087.1:p.Arg449Pro
NM_001384159.1:c.1274G>C	NP_001371088.1:p.Arg425Pro
NM_001384160.1:c.*7G>C	NP_001371089.1:n.*7G>C
NM_001384161.1:c.*7G>C	NP_001371090.1:n.*7G>C
NM_001384162.1:c.1055G>C	NP_001371091.1:p.Arg352Pro
NM_006329.4:c.1223G>C MANE Select	NP_006320.2:p.Arg408Pro