Canonical Allele Identifier: CA380052444

Gene: NELL1

Linked Data

• MyVariant Identifiers: chr11:g.20805268A>T (hg19) ; chr11:g.20783722A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.20783722A>T , CM000673.2:g.20783722A>T	GRCh38
NC_000011.9:g.20805268A>T , CM000673.1:g.20805268A>T	GRCh37
NC_000011.8:g.20761844A>T	NCBI36
NG_047064.1:g.119172A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357134.10:c.227A>T MANE Select	ENSP00000349654.5:p.Lys76Ile
ENST00000298925.9:c.311A>T	ENSP00000298925.5:p.Lys104Ile
ENST00000325319.9:c.227A>T	ENSP00000317837.5:p.Lys76Ile
ENST00000357134.9:c.227A>T	ENSP00000349654.5:p.Lys76Ile
ENST00000524738.1:n.54A>T
ENST00000527873.5:n.248A>T
ENST00000528046.5:n.410A>T
ENST00000529595.1:n.115A>T
ENST00000532434.5:c.227A>T	ENSP00000437170.1:p.Lys76Ile
ENST00000619031.4:c.-486A>T	ENSP00000479479.1:n.-486A>T
NM_001288713.1:c.311A>T	NP_001275642.1:p.Lys104Ile
NM_001288714.1:c.227A>T	NP_001275643.1:p.Lys76Ile
NM_006157.4:c.227A>T	NP_006148.2:p.Lys76Ile
NM_201551.2:c.227A>T	NP_963845.1:p.Lys76Ile
NM_006157.5:c.227A>T MANE Select	NP_006148.2:p.Lys76Ile