Canonical Allele Identifier: CA390642248

Gene: FBLN5

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91882966G>A , CM000676.2:g.91882966G>A	GRCh38
NC_000014.8:g.92349310G>A , CM000676.1:g.92349310G>A	GRCh37
NC_000014.7:g.91419063G>A	NCBI36
NG_008254.1:g.69737C>T , LRG_364:g.69737C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_006329.4:c.850C>T MANE Select	NP_006320.2:p.Arg284Ter
ENST00000342058.9:c.850C>T MANE Select	ENSP00000345008.4:p.Arg284Ter
NM_001384158.1:c.973C>T	NP_001371087.1:p.Arg325Ter
NM_001384159.1:c.901C>T	NP_001371088.1:p.Arg301Ter
NM_001384160.1:c.850C>T	NP_001371089.1:p.Arg284Ter
NM_001384161.1:c.682C>T	NP_001371090.1:p.Arg228Ter
NM_001384162.1:c.682C>T	NP_001371091.1:p.Arg228Ter
NM_006329.3:c.850C>T , LRG_364t1:c.850C>T	NP_006320.2:p.Arg284Ter
ENST00000267620.14:c.973C>T	ENSP00000267620.10:p.Arg325Ter
ENST00000342058.8:c.850C>T	ENSP00000345008.4:p.Arg284Ter
ENST00000556154.5:c.865C>T	ENSP00000451982.1:p.Arg289Ter
ENST00000557088.6:c.*816C>T	ENSP00000451002.1:n.*816C>T
ENST00000557570.2:c.682C>T	ENSP00000450787.2:p.Arg228Ter
ENST00000706675.1:n.665C>T
ENST00000706676.1:c.1024C>T	ENSP00000516492.1:p.Arg342Ter
ENST00000706677.1:c.850C>T	ENSP00000516493.1:p.Arg284Ter
ENST00000706678.1:n.770C>T
ENST00000706679.1:c.682C>T	ENSP00000516494.1:p.Arg228Ter
ENST00000706680.1:c.*693C>T	ENSP00000516495.1:n.*693C>T
ENST00000706681.1:c.*589C>T	ENSP00000516496.1:n.*589C>T
XM_005267267.3:c.901C>T	XP_005267324.1:p.Arg301Ter
XM_011536356.1:c.901C>T	XP_011534658.1:p.Arg301Ter
XM_011536357.1:c.850C>T	XP_011534659.1:p.Arg284Ter
XM_011536357.2:c.850C>T	XP_011534659.1:p.Arg284Ter
XM_011536358.1:c.682C>T	XP_011534660.1:p.Arg228Ter
XM_011536358.2:c.682C>T	XP_011534660.1:p.Arg228Ter
XM_017020929.2:c.682C>T	XP_016876418.1:p.Arg228Ter