Canonical Allele Identifier: CA2200917946
Gene: LUC7L HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.215160C>G , CM000678.2:g.215160C>G GRCh38
NC_000016.9:g.265159C>G , CM000678.1:g.265159C>G GRCh37
NC_000016.8:g.205160C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000293872.13:c.255+5489G>C MANE Select ENSP00000293872.8:n.255+5489G>C
ENST00000293872.12:c.255+5489G>C ENSP00000293872.8:n.255+5489G>C
ENST00000337351.8:c.255+5489G>C ENSP00000337507.4:n.255+5489G>C
ENST00000397780.5:c.96+5489G>C ENSP00000380882.1:n.96+5489G>C
ENST00000397783.5:c.255+5489G>C ENSP00000380885.1:n.255+5489G>C
ENST00000418978.5:c.*157+5489G>C ENSP00000393551.1:n.*157+5489G>C
ENST00000419516.5:c.*157+5489G>C ENSP00000414860.1:n.*157+5489G>C
ENST00000426094.5:c.*1418+5489G>C ENSP00000390953.1:n.*1418+5489G>C
ENST00000430864.5:c.-3-6972G>C ENSP00000406695.1:n.-3-6972G>C
ENST00000443357.5:c.-68+5489G>C ENSP00000414508.1:n.-68+5489G>C
ENST00000490762.5:n.1433+5489G>C
ENST00000494366.5:n.636+5489G>C
ENST00000629543.2:c.*157+5489G>C ENSP00000485761.1:n.*157+5489G>C
NM_018032.3:c.255+5489G>C NP_060502.1:n.255+5489G>C
NM_201412.1:c.255+5489G>C NP_958815.1:n.255+5489G>C
XM_005255426.1:c.255+5489G>C XP_005255483.1:n.255+5489G>C
XM_005255427.2:c.96+5489G>C XP_005255484.1:n.96+5489G>C
XM_005255428.2:c.-68+5489G>C XP_005255485.1:n.-68+5489G>C
XM_005255429.2:c.-68+5489G>C XP_005255486.1:n.-68+5489G>C
XM_006720903.2:c.96+5489G>C XP_006720966.1:n.96+5489G>C
XM_011522561.1:c.157-6972G>C XP_011520863.1:n.157-6972G>C
XM_011522562.1:c.96+5489G>C XP_011520864.1:n.96+5489G>C
XM_011522563.1:c.96+5489G>C XP_011520865.1:n.96+5489G>C
NM_001320226.1:c.255+5489G>C NP_001307155.1:n.255+5489G>C
NM_001330420.1:c.96+5489G>C NP_001317349.1:n.96+5489G>C
NM_018032.4:c.255+5489G>C NP_060502.1:n.255+5489G>C
NM_201412.2:c.255+5489G>C NP_958815.1:n.255+5489G>C
XM_005255427.3:c.96+5489G>C XP_005255484.1:n.96+5489G>C
XM_005255429.3:c.-68+5489G>C XP_005255486.1:n.-68+5489G>C
XM_011522561.2:c.157-6972G>C XP_011520863.1:n.157-6972G>C
XM_017023437.2:c.96+5489G>C XP_016878926.1:n.96+5489G>C
XM_017023438.2:c.-68+5489G>C XP_016878927.1:n.-68+5489G>C
XM_017023440.2:c.-68+5489G>C XP_016878929.1:n.-68+5489G>C
XM_024450344.1:c.157-6972G>C XP_024306112.1:n.157-6972G>C
NM_018032.5:c.255+5489G>C NP_060502.1:n.255+5489G>C
NM_001320226.2:c.255+5489G>C NP_001307155.1:n.255+5489G>C
NM_001330420.2:c.96+5489G>C NP_001317349.1:n.96+5489G>C
NM_201412.3:c.255+5489G>C MANE Select NP_958815.1:n.255+5489G>C