Canonical Allele Identifier: CA16044006
Gene: REEP6 HGNC NCBI

Linked Data

ClinVar Variation Id: 374989
dbSNP Id: rs1057519316
gnomAD v4: 19-1496340-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1496340T>C , CM000681.2:g.1496340T>C GRCh38
NC_000019.9:g.1496339T>C , CM000681.1:g.1496339T>C GRCh37
NC_000019.8:g.1447339T>C NCBI36
NG_055254.1:g.10336T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000233596.8:c.404T>C MANE Select ENSP00000233596.2:p.Leu135Pro
ENST00000395479.10:c.404T>C MANE Plus Clinical ENSP00000378861.5:p.Leu135Pro
ENST00000233596.7:c.404T>C ENSP00000233596.2:p.Leu135Pro
ENST00000395479.8:c.220T>C
ENST00000395484.4:c.188T>C ENSP00000378865.4:p.Leu63Pro
NM_138393.1:c.404T>C NP_612402.1:p.Leu135Pro
NM_001329556.2:c.404T>C NP_001316485.1:p.Leu135Pro
NM_138393.3:c.404T>C NP_612402.1:p.Leu135Pro
NM_138393.4:c.404T>C MANE Select NP_612402.1:p.Leu135Pro
NM_001329556.3:c.404T>C MANE Plus Clinical NP_001316485.1:p.Leu135Pro