Canonical Allele Identifier: CA380052412

Gene: NELL1

Linked Data

• MyVariant Identifiers: chr11:g.20805253C>G (hg19) ; chr11:g.20783707C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.20783707C>G , CM000673.2:g.20783707C>G	GRCh38
NC_000011.9:g.20805253C>G , CM000673.1:g.20805253C>G	GRCh37
NC_000011.8:g.20761829C>G	NCBI36
NG_047064.1:g.119157C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357134.10:c.212C>G MANE Select	ENSP00000349654.5:p.Pro71Arg
ENST00000298925.9:c.296C>G	ENSP00000298925.5:p.Pro99Arg
ENST00000325319.9:c.212C>G	ENSP00000317837.5:p.Pro71Arg
ENST00000357134.9:c.212C>G	ENSP00000349654.5:p.Pro71Arg
ENST00000524738.1:n.39C>G
ENST00000527873.5:n.233C>G
ENST00000528046.5:n.395C>G
ENST00000529595.1:n.100C>G
ENST00000532434.5:c.212C>G	ENSP00000437170.1:p.Pro71Arg
ENST00000619031.4:c.-501C>G	ENSP00000479479.1:n.-501C>G
NM_001288713.1:c.296C>G	NP_001275642.1:p.Pro99Arg
NM_001288714.1:c.212C>G	NP_001275643.1:p.Pro71Arg
NM_006157.4:c.212C>G	NP_006148.2:p.Pro71Arg
NM_201551.2:c.212C>G	NP_963845.1:p.Pro71Arg
NM_006157.5:c.212C>G MANE Select	NP_006148.2:p.Pro71Arg