Canonical Allele Identifier: CA7312637

Gene: FBLN5

Linked Data

• dbSNP Id: rs201191163
• ExAC: 14:92344001 G / T
• gnomAD v2: 14-92344001-G-T
• gnomAD v4: 14-91877657-G-T
• MyVariant Identifiers: chr14:g.92344001G>T (hg19) ; chr14:g.91877657G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91877657G>T , CM000676.2:g.91877657G>T	GRCh38
NC_000014.8:g.92344001G>T , CM000676.1:g.92344001G>T	GRCh37
NC_000014.7:g.91413754G>T	NCBI36
NG_008254.1:g.75046C>A , LRG_364:g.75046C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557088.6:c.*981C>A	ENSP00000451002.1:n.*981C>A
ENST00000557570.2:c.847C>A	ENSP00000450787.2:p.Pro283Thr
ENST00000706675.1:n.830C>A
ENST00000706676.1:c.1189C>A	ENSP00000516492.1:p.Pro397Thr
ENST00000706677.1:c.1015C>A	ENSP00000516493.1:p.Pro339Thr
ENST00000706678.1:n.935C>A
ENST00000706679.1:c.847C>A	ENSP00000516494.1:p.Pro283Thr
ENST00000706680.1:c.*858C>A	ENSP00000516495.1:n.*858C>A
ENST00000706681.1:c.*754C>A	ENSP00000516496.1:n.*754C>A
ENST00000342058.9:c.1015C>A MANE Select	ENSP00000345008.4:p.Pro339Thr
ENST00000267620.14:c.1138C>A	ENSP00000267620.10:p.Pro380Thr
ENST00000342058.8:c.1015C>A	ENSP00000345008.4:p.Pro339Thr
ENST00000554121.2:n.141C>A
ENST00000556154.5:c.1030C>A	ENSP00000451982.1:p.Pro344Thr
NM_006329.3:c.1015C>A , LRG_364t1:c.1015C>A	NP_006320.2:p.Pro339Thr
XM_005267267.3:c.1066C>A	XP_005267324.1:p.Pro356Thr
XM_011536356.1:c.1066C>A	XP_011534658.1:p.Pro356Thr
XM_011536357.1:c.1015C>A	XP_011534659.1:p.Pro339Thr
XM_011536358.1:c.847C>A	XP_011534660.1:p.Pro283Thr
XM_011536357.2:c.1015C>A	XP_011534659.1:p.Pro339Thr
XM_011536358.2:c.847C>A	XP_011534660.1:p.Pro283Thr
XM_017020929.2:c.847C>A	XP_016876418.1:p.Pro283Thr
NM_001384158.1:c.1138C>A	NP_001371087.1:p.Pro380Thr
NM_001384159.1:c.1066C>A	NP_001371088.1:p.Pro356Thr
NM_001384160.1:c.1015C>A	NP_001371089.1:p.Pro339Thr
NM_001384161.1:c.847C>A	NP_001371090.1:p.Pro283Thr
NM_001384162.1:c.847C>A	NP_001371091.1:p.Pro283Thr
NM_006329.4:c.1015C>A MANE Select	NP_006320.2:p.Pro339Thr