Canonical Allele Identifier: CA403056864

Gene: REEP6

Linked Data

• ClinVar Variation Id: 1213893
• ClinVar RCV Id: RCV001591835
• dbSNP Id: rs2085005383
• MyVariant Identifiers: chr19:g.1496283G>A (hg19) ; chr19:g.1496284G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1496284G>A , CM000681.2:g.1496284G>A	GRCh38
NC_000019.9:g.1496283G>A , CM000681.1:g.1496283G>A	GRCh37
NC_000019.8:g.1447283G>A	NCBI36
NG_055254.1:g.10280G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233596.8:c.349-1G>A MANE Select	ENSP00000233596.2:n.349-1G>A
ENST00000395479.10:c.349-1G>A MANE Plus Clinical	ENSP00000378861.5:n.349-1G>A
ENST00000233596.7:c.349-1G>A	ENSP00000233596.2:n.349-1G>A
ENST00000395479.8:c.165-1G>A
ENST00000395484.4:c.133-1G>A	ENSP00000378865.4:n.133-1G>A
NM_138393.1:c.349-1G>A	NP_612402.1:n.349-1G>A
NM_001329556.2:c.349-1G>A	NP_001316485.1:n.349-1G>A
NM_138393.3:c.349-1G>A	NP_612402.1:n.349-1G>A
NM_138393.4:c.349-1G>A MANE Select	NP_612402.1:n.349-1G>A
NM_001329556.3:c.349-1G>A MANE Plus Clinical	NP_001316485.1:n.349-1G>A