Canonical Allele Identifier: CA5921932

Gene: NELL1

Linked Data

• dbSNP Id: rs761718826
• ExAC: 11:20805340 C / T
• gnomAD v3: 11-20783794-C-T
• gnomAD v4: 11-20783794-C-T
• MyVariant Identifiers: chr11:g.20805340C>T (hg19) ; chr11:g.20783794C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.20783794C>T , CM000673.2:g.20783794C>T	GRCh38
NC_000011.9:g.20805340C>T , CM000673.1:g.20805340C>T	GRCh37
NC_000011.8:g.20761916C>T	NCBI36
NG_047064.1:g.119244C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357134.10:c.299C>T MANE Select	ENSP00000349654.5:p.Ser100Leu
ENST00000298925.9:c.383C>T	ENSP00000298925.5:p.Ser128Leu
ENST00000325319.9:c.299C>T	ENSP00000317837.5:p.Ser100Leu
ENST00000357134.9:c.299C>T	ENSP00000349654.5:p.Ser100Leu
ENST00000524738.1:n.126C>T
ENST00000527873.5:n.320C>T
ENST00000528046.5:n.482C>T
ENST00000529595.1:n.187C>T
ENST00000532434.5:c.299C>T	ENSP00000437170.1:p.Ser100Leu
ENST00000619031.4:c.-414C>T	ENSP00000479479.1:n.-414C>T
NM_001288713.1:c.383C>T	NP_001275642.1:p.Ser128Leu
NM_001288714.1:c.299C>T	NP_001275643.1:p.Ser100Leu
NM_006157.4:c.299C>T	NP_006148.2:p.Ser100Leu
NM_201551.2:c.299C>T	NP_963845.1:p.Ser100Leu
NM_006157.5:c.299C>T MANE Select	NP_006148.2:p.Ser100Leu