Canonical Allele Identifier: CA24828897

Gene: NEGR1

Linked Data

• dbSNP Id: rs993113762
• gnomAD v2: 1-72070975-A-G
• gnomAD v3: 1-71605292-A-G
• gnomAD v4: 1-71605292-A-G
• MyVariant Identifiers: chr1:g.72070975A>G (hg19) ; chr1:g.71605292A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.71605292A>G , CM000663.2:g.71605292A>G	GRCh38
NC_000001.10:g.72070975A>G , CM000663.1:g.72070975A>G	GRCh37
NC_000001.9:g.71843563A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357731.10:c.788+5734T>C MANE Select	ENSP00000350364.4:n.788+5734T>C
ENST00000306821.3:c.404+5734T>C	ENSP00000305938.3:n.404+5734T>C
ENST00000357731.9:c.788+5734T>C	ENSP00000350364.4:n.788+5734T>C
ENST00000434200.5:c.623+5734T>C	ENSP00000413294.2:n.623+5734T>C
NM_173808.2:c.788+5734T>C	NP_776169.2:n.788+5734T>C
XM_011541200.1:c.788+5734T>C	XP_011539502.1:n.788+5734T>C
XM_011541200.3:c.788+5734T>C	XP_011539502.1:n.788+5734T>C
NM_173808.3:c.788+5734T>C MANE Select	NP_776169.2:n.788+5734T>C