Canonical Allele Identifier: CA473461435
Gene: NELL1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.20805281G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.20783735G>C , CM000673.2:g.20783735G>C GRCh38
NC_000011.9:g.20805281G>C , CM000673.1:g.20805281G>C GRCh37
NC_000011.8:g.20761857G>C NCBI36
NG_047064.1:g.119185G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000357134.10:c.240G>C MANE Select ENSP00000349654.5:p.Leu80=
ENST00000298925.9:c.324G>C ENSP00000298925.5:p.Leu108=
ENST00000325319.9:c.240G>C ENSP00000317837.5:p.Leu80=
ENST00000357134.9:c.240G>C ENSP00000349654.5:p.Leu80=
ENST00000524738.1:n.67G>C
ENST00000527873.5:n.261G>C
ENST00000528046.5:n.423G>C
ENST00000529595.1:n.128G>C
ENST00000532434.5:c.240G>C ENSP00000437170.1:p.Leu80=
ENST00000619031.4:c.-473G>C ENSP00000479479.1:n.-473G>C
NM_001288713.1:c.324G>C NP_001275642.1:p.Leu108=
NM_001288714.1:c.240G>C NP_001275643.1:p.Leu80=
NM_006157.4:c.240G>C NP_006148.2:p.Leu80=
NM_201551.2:c.240G>C NP_963845.1:p.Leu80=
NM_006157.5:c.240G>C MANE Select NP_006148.2:p.Leu80=