Canonical Allele Identifier: CA218987227

Gene: NELL1

Linked Data

• dbSNP Id: rs111888084
• gnomAD v2: 11-21564948-C-T
• gnomAD v3: 11-21543402-C-T
• gnomAD v4: 11-21543402-C-T
• MyVariant Identifiers: chr11:g.21564948C>T (hg19) ; chr11:g.21543402C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.21543402C>T , CM000673.2:g.21543402C>T	GRCh38
NC_000011.9:g.21564948C>T , CM000673.1:g.21564948C>T	GRCh37
NC_000011.8:g.21521524C>T	NCBI36
NG_047064.1:g.878852C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357134.10:c.1786+8888C>T MANE Select	ENSP00000349654.5:n.1786+8888C>T
ENST00000298925.9:c.1870+8888C>T	ENSP00000298925.5:n.1870+8888C>T
ENST00000325319.9:c.1615+8888C>T	ENSP00000317837.5:n.1615+8888C>T
ENST00000357134.9:c.1786+8888C>T	ENSP00000349654.5:n.1786+8888C>T
ENST00000529218.5:n.1140+8888C>T
ENST00000532434.5:c.1646-16787C>T	ENSP00000437170.1:n.1646-16787C>T
ENST00000619031.4:c.1066+8888C>T	ENSP00000479479.1:n.1066+8888C>T
NM_001288713.1:c.1870+8888C>T	NP_001275642.1:n.1870+8888C>T
NM_001288714.1:c.1615+8888C>T	NP_001275643.1:n.1615+8888C>T
NM_006157.4:c.1786+8888C>T	NP_006148.2:n.1786+8888C>T
NM_201551.2:c.1646-16787C>T	NP_963845.1:n.1646-16787C>T
XM_011520119.1:c.829+8888C>T	XP_011518421.1:n.829+8888C>T
NM_006157.5:c.1786+8888C>T MANE Select	NP_006148.2:n.1786+8888C>T