Canonical Allele Identifier: CA174520

Gene: NELL1

Linked Data

• ClinVar Variation Id: 161645
• ClinVar RCV Id: RCV000149181
• dbSNP Id: rs193920875
• COSMIC: COSM1179928
• MyVariant Identifiers: chr11:g.21555940G>T (hg19) ; chr11:g.21534394G>T (hg38)
• PubMed: PMID:23265383

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.21534394G>T , CM000673.2:g.21534394G>T	GRCh38
NC_000011.9:g.21555940G>T , CM000673.1:g.21555940G>T	GRCh37
NC_000011.8:g.21512516G>T	NCBI36
NG_047064.1:g.869844G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357134.10:c.1666G>T MANE Select	ENSP00000349654.5:p.Gly556Ter
ENST00000298925.9:c.1750G>T	ENSP00000298925.5:p.Gly584Ter
ENST00000325319.9:c.1495G>T	ENSP00000317837.5:p.Gly499Ter
ENST00000357134.9:c.1666G>T	ENSP00000349654.5:p.Gly556Ter
ENST00000529218.5:n.1020G>T
ENST00000532434.5:c.1646-25795G>T	ENSP00000437170.1:n.1646-25795G>T
ENST00000619031.4:c.946G>T	ENSP00000479479.1:p.Gly316Ter
NM_001288713.1:c.1750G>T	NP_001275642.1:p.Gly584Ter
NM_001288714.1:c.1495G>T	NP_001275643.1:p.Gly499Ter
NM_006157.4:c.1666G>T	NP_006148.2:p.Gly556Ter
NM_201551.2:c.1646-25795G>T	NP_963845.1:n.1646-25795G>T
XM_011520119.1:c.709G>T	XP_011518421.1:p.Gly237Ter
NM_006157.5:c.1666G>T MANE Select	NP_006148.2:p.Gly556Ter