Canonical Allele Identifier: CA2583000159

Gene: REEP6

Linked Data

• ClinVar Variation Id: 2783165
• ClinVar RCV Id: RCV003665888
• gnomAD v4: 19-1495462-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1495462C>T , CM000681.2:g.1495462C>T	GRCh38
NC_000019.9:g.1495461C>T , CM000681.1:g.1495461C>T	GRCh37
NC_000019.8:g.1446461C>T	NCBI36
NG_055254.1:g.9458C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233596.8:c.210-7C>T MANE Select	ENSP00000233596.2:n.210-7C>T
ENST00000395479.10:c.210-7C>T MANE Plus Clinical	ENSP00000378861.5:n.210-7C>T
ENST00000233596.7:c.210-7C>T	ENSP00000233596.2:n.210-7C>T
ENST00000395479.8:c.26-7C>T
ENST00000591735.2:n.314-7C>T
NM_138393.1:c.210-7C>T	NP_612402.1:n.210-7C>T
NM_001329556.2:c.210-7C>T	NP_001316485.1:n.210-7C>T
NM_138393.3:c.210-7C>T	NP_612402.1:n.210-7C>T
NM_138393.4:c.210-7C>T MANE Select	NP_612402.1:n.210-7C>T
NM_001329556.3:c.210-7C>T MANE Plus Clinical	NP_001316485.1:n.210-7C>T