Canonical Allele Identifier: CA390640557

Gene: FBLN5

Linked Data

• MyVariant Identifiers: chr14:g.92343887C>G (hg19) ; chr14:g.91877543C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91877543C>G , CM000676.2:g.91877543C>G	GRCh38
NC_000014.8:g.92343887C>G , CM000676.1:g.92343887C>G	GRCh37
NC_000014.7:g.91413640C>G	NCBI36
NG_008254.1:g.75160G>C , LRG_364:g.75160G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557088.6:c.*1095G>C	ENSP00000451002.1:n.*1095G>C
ENST00000557570.2:c.961G>C	ENSP00000450787.2:p.Ala321Pro
ENST00000706675.1:n.944G>C
ENST00000706676.1:c.1303G>C	ENSP00000516492.1:p.Ala435Pro
ENST00000706677.1:c.1129G>C	ENSP00000516493.1:p.Ala377Pro
ENST00000706678.1:n.1049G>C
ENST00000706679.1:c.961G>C	ENSP00000516494.1:p.Ala321Pro
ENST00000706680.1:c.*972G>C	ENSP00000516495.1:n.*972G>C
ENST00000706681.1:c.*868G>C	ENSP00000516496.1:n.*868G>C
ENST00000342058.9:c.1129G>C MANE Select	ENSP00000345008.4:p.Ala377Pro
ENST00000267620.14:c.1252G>C	ENSP00000267620.10:p.Ala418Pro
ENST00000342058.8:c.1129G>C	ENSP00000345008.4:p.Ala377Pro
ENST00000554121.2:n.255G>C
ENST00000556154.5:c.1144G>C	ENSP00000451982.1:p.Ala382Pro
NM_006329.3:c.1129G>C , LRG_364t1:c.1129G>C	NP_006320.2:p.Ala377Pro
XM_005267267.3:c.1180G>C	XP_005267324.1:p.Ala394Pro
XM_011536356.1:c.1180G>C	XP_011534658.1:p.Ala394Pro
XM_011536357.1:c.1129G>C	XP_011534659.1:p.Ala377Pro
XM_011536358.1:c.961G>C	XP_011534660.1:p.Ala321Pro
XM_011536357.2:c.1129G>C	XP_011534659.1:p.Ala377Pro
XM_011536358.2:c.961G>C	XP_011534660.1:p.Ala321Pro
XM_017020929.2:c.961G>C	XP_016876418.1:p.Ala321Pro
NM_001384158.1:c.1252G>C	NP_001371087.1:p.Ala418Pro
NM_001384159.1:c.1180G>C	NP_001371088.1:p.Ala394Pro
NM_001384160.1:c.1129G>C	NP_001371089.1:p.Ala377Pro
NM_001384161.1:c.961G>C	NP_001371090.1:p.Ala321Pro
NM_001384162.1:c.961G>C	NP_001371091.1:p.Ala321Pro
NM_006329.4:c.1129G>C MANE Select	NP_006320.2:p.Ala377Pro