Canonical Allele Identifier: CA304100493
Gene: REEP6 HGNC NCBI

Linked Data

ClinVar Variation Id: 866532
ClinVar RCV Id: RCV001074598 RCV001862566
dbSNP Id: rs978250545
gnomAD v2: 19-1496326-G-A
gnomAD v3: 19-1496327-G-A
gnomAD v4: 19-1496327-G-A
COSMIC: COSM6279873 COSM6279874
MyVariant Identifiers: chr19:g.1496326G>A (hg19) chr19:g.1496327G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1496327G>A , CM000681.2:g.1496327G>A GRCh38
NC_000019.9:g.1496326G>A , CM000681.1:g.1496326G>A GRCh37
NC_000019.8:g.1447326G>A NCBI36
NG_055254.1:g.10323G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000233596.8:c.391G>A MANE Select ENSP00000233596.2:p.Gly131Arg
ENST00000395479.10:c.391G>A MANE Plus Clinical ENSP00000378861.5:p.Gly131Arg
ENST00000233596.7:c.391G>A ENSP00000233596.2:p.Gly131Arg
ENST00000395479.8:c.207G>A
ENST00000395484.4:c.175G>A ENSP00000378865.4:p.Gly59Arg
NM_138393.1:c.391G>A NP_612402.1:p.Gly131Arg
NM_001329556.2:c.391G>A NP_001316485.1:p.Gly131Arg
NM_138393.3:c.391G>A NP_612402.1:p.Gly131Arg
NM_138393.4:c.391G>A MANE Select NP_612402.1:p.Gly131Arg
NM_001329556.3:c.391G>A MANE Plus Clinical NP_001316485.1:p.Gly131Arg
Search 100 bp 5'
Search 100 bp 3'