Canonical Allele Identifier: CA8612879

Gene: FMNL1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.45241916C>T , CM000679.2:g.45241916C>T	GRCh38
NC_000017.10:g.43319283C>T , CM000679.1:g.43319283C>T	GRCh37
NC_000017.9:g.40675066C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000587489.6:c.1655C>T	ENSP00000465474.2:p.Pro552Leu
ENST00000331495.8:c.1655C>T MANE Select	ENSP00000329219.2:p.Pro552Leu
ENST00000328118.7:c.783+26C>T	ENSP00000327442.4:n.783+26C>T
ENST00000331495.7:c.1655C>T	ENSP00000329219.2:p.Pro552Leu
ENST00000587489.5:c.389C>T	ENSP00000465474.1:p.Pro130Leu
ENST00000587856.1:n.2224C>T
NM_005892.3:c.1655C>T	NP_005883.2:p.Pro552Leu
XM_006722062.2:c.1673C>T	XP_006722125.1:p.Pro558Leu
XM_006722063.2:c.1655C>T	XP_006722126.1:p.Pro552Leu
XM_006722064.2:c.1643C>T	XP_006722127.1:p.Pro548Leu
XM_006722065.2:c.1625C>T	XP_006722128.1:p.Pro542Leu
XM_006722066.2:c.1673C>T	XP_006722129.1:p.Pro558Leu
XM_006722069.1:c.1673C>T	XP_006722132.1:p.Pro558Leu
XM_006722070.2:c.1655C>T	XP_006722133.1:p.Pro552Leu
XM_011525179.1:c.1673C>T	XP_011523481.1:p.Pro558Leu
XM_011525180.1:c.1580C>T	XP_011523482.1:p.Pro527Leu
XM_011525181.1:c.1673C>T	XP_011523483.1:p.Pro558Leu
XM_011525182.1:c.1673C>T	XP_011523484.1:p.Pro558Leu
XM_006722062.4:c.1673C>T	XP_006722125.1:p.Pro558Leu
XM_006722063.4:c.1655C>T	XP_006722126.1:p.Pro552Leu
XM_006722064.4:c.1643C>T	XP_006722127.1:p.Pro548Leu
XM_006722065.4:c.1625C>T	XP_006722128.1:p.Pro542Leu
XM_006722066.4:c.1673C>T	XP_006722129.1:p.Pro558Leu
XM_006722069.3:c.1673C>T	XP_006722132.1:p.Pro558Leu
XM_006722070.4:c.1655C>T	XP_006722133.1:p.Pro552Leu
XM_011525179.3:c.1673C>T	XP_011523481.1:p.Pro558Leu
XM_011525180.2:c.1580C>T	XP_011523482.1:p.Pro527Leu
XM_011525182.3:c.1673C>T	XP_011523484.1:p.Pro558Leu
NM_005892.4:c.1655C>T MANE Select	NP_005883.3:p.Pro552Leu