Canonical Allele Identifier: CA2682753

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.158667022A>G , CM000665.2:g.158667022A>G GRCh38
NC_000003.11:g.158384811A>G , CM000665.1:g.158384811A>G GRCh37
NC_000003.10:g.159867505A>G NCBI36
NG_008441.1:g.27495A>G

Transcript Alleles

HGVS Amino-acid Change
NM_020169.4:c.560T>C (LXN) MANE Select NP_064554.3:p.Ile187Thr
NM_024996.7:c.1601+636A>G (GFM1) MANE Select NP_079272.4:n.1601+636A>G
ENST00000264265.4:c.560T>C (LXN) MANE Select ENSP00000264265.3:p.Ile187Thr
ENST00000486715.6:c.1601+636A>G (GFM1) MANE Select ENSP00000419038.1:n.1601+636A>G
NM_001308164.1:c.1658+636A>G (GFM1) NP_001295093.1:n.1658+636A>G
NM_001308164.2:c.1658+636A>G (GFM1) NP_001295093.1:n.1658+636A>G
NM_001308166.1:c.1601+636A>G (GFM1) NP_001295095.1:n.1601+636A>G
NM_001308166.2:c.1601+636A>G (GFM1) NP_001295095.1:n.1601+636A>G
NM_001374355.1:c.1520+636A>G (GFM1) NP_001361284.1:n.1520+636A>G
NM_001374356.1:c.1484+636A>G (GFM1) NP_001361285.1:n.1484+636A>G
NM_001374357.1:c.1376+636A>G (GFM1) NP_001361286.1:n.1376+636A>G
NM_001374358.1:c.1142+636A>G (GFM1) NP_001361287.1:n.1142+636A>G
NM_001374359.1:c.1034+636A>G (GFM1) NP_001361288.1:n.1034+636A>G
NM_001374360.1:c.1034+636A>G (GFM1) NP_001361289.1:n.1034+636A>G
NM_001374361.1:c.917+636A>G (GFM1) NP_001361290.1:n.917+636A>G
NM_020169.3:c.560T>C (LXN) NP_064554.3:p.Ile187Thr
NM_024996.5:c.1601+636A>G (GFM1) NP_079272.4:n.1601+636A>G
NR_164499.1:n.1624+636A>G (GFM1)
NR_164500.1:n.1709+636A>G (GFM1)
NR_164501.1:n.1254+636A>G (GFM1)
NR_164502.1:n.1588+636A>G (GFM1)
ENST00000264263.9:c.1658+636A>G (GFM1) ENSP00000264263.5:n.1658+636A>G
ENST00000264265.3:c.560T>C (LXN) ENSP00000264265.3:p.Ile187Thr
ENST00000478254.5:c.*241+636A>G (GFM1) ENSP00000417225.1:n.*241+636A>G
ENST00000478576.5:c.1601+636A>G (GFM1) ENSP00000418755.1:n.1601+636A>G
ENST00000482640.5:c.351T>C (LXN)
ENST00000486715.5:c.1601+636A>G (GFM1) ENSP00000419038.1:n.1601+636A>G
XM_006713795.1:c.1484+636A>G (GFM1) XP_006713858.1:n.1484+636A>G
XM_006713795.2:c.1484+636A>G (GFM1) XP_006713858.1:n.1484+636A>G
XM_017006876.1:c.560T>C (LXN) XP_016862365.1:p.Ile187Thr