Canonical Allele Identifier: CA86513983

Gene: LXN GFM1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.158666476T>G , CM000665.2:g.158666476T>G	GRCh38
NC_000003.11:g.158384265T>G , CM000665.1:g.158384265T>G	GRCh37
NC_000003.10:g.159866959T>G	NCBI36
NG_008441.1:g.26949T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_020169.4:c.*170A>C (LXN) MANE Select	NP_064554.3:n.*170A>C
NM_024996.7:c.1601+90T>G (GFM1) MANE Select	NP_079272.4:n.1601+90T>G
ENST00000264265.4:c.*170A>C (LXN) MANE Select	ENSP00000264265.3:n.*170A>C
ENST00000486715.6:c.1601+90T>G (GFM1) MANE Select	ENSP00000419038.1:n.1601+90T>G
NM_001308164.1:c.1658+90T>G (GFM1)	NP_001295093.1:n.1658+90T>G
NM_001308164.2:c.1658+90T>G (GFM1)	NP_001295093.1:n.1658+90T>G
NM_001308166.1:c.1601+90T>G (GFM1)	NP_001295095.1:n.1601+90T>G
NM_001308166.2:c.1601+90T>G (GFM1)	NP_001295095.1:n.1601+90T>G
NM_001374355.1:c.1520+90T>G (GFM1)	NP_001361284.1:n.1520+90T>G
NM_001374356.1:c.1484+90T>G (GFM1)	NP_001361285.1:n.1484+90T>G
NM_001374357.1:c.1376+90T>G (GFM1)	NP_001361286.1:n.1376+90T>G
NM_001374358.1:c.1142+90T>G (GFM1)	NP_001361287.1:n.1142+90T>G
NM_001374359.1:c.1034+90T>G (GFM1)	NP_001361288.1:n.1034+90T>G
NM_001374360.1:c.1034+90T>G (GFM1)	NP_001361289.1:n.1034+90T>G
NM_001374361.1:c.917+90T>G (GFM1)	NP_001361290.1:n.917+90T>G
NM_020169.3:c.*170A>C (LXN)	NP_064554.3:n.*170A>C
NM_024996.5:c.1601+90T>G (GFM1)	NP_079272.4:n.1601+90T>G
NR_164499.1:n.1624+90T>G (GFM1)
NR_164500.1:n.1709+90T>G (GFM1)
NR_164501.1:n.1254+90T>G (GFM1)
NR_164502.1:n.1588+90T>G (GFM1)
ENST00000264263.9:c.1658+90T>G (GFM1)	ENSP00000264263.5:n.1658+90T>G
ENST00000264265.3:c.*170A>C (LXN)	ENSP00000264265.3:n.*170A>C
ENST00000478254.5:c.*241+90T>G (GFM1)	ENSP00000417225.1:n.*241+90T>G
ENST00000478576.5:c.1601+90T>G (GFM1)	ENSP00000418755.1:n.1601+90T>G
ENST00000482640.5:c.361+536A>C (LXN)
ENST00000486715.5:c.1601+90T>G (GFM1)	ENSP00000419038.1:n.1601+90T>G
XM_006713795.1:c.1484+90T>G (GFM1)	XP_006713858.1:n.1484+90T>G
XM_006713795.2:c.1484+90T>G (GFM1)	XP_006713858.1:n.1484+90T>G
XM_017006876.1:c.*431A>C (LXN)	XP_016862365.1:n.*431A>C