Canonical Allele Identifier: CA403056961

Gene: REEP6

Linked Data

• MyVariant Identifiers: chr19:g.1496326G>T (hg19) ; chr19:g.1496327G>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000233596.8:c.391G>T MANE Select	ENSP00000233596.2:p.Gly131Trp
ENST00000395479.10:c.391G>T MANE Plus Clinical	ENSP00000378861.5:p.Gly131Trp
ENST00000233596.7:c.391G>T	ENSP00000233596.2:p.Gly131Trp
ENST00000395479.8:c.207G>T
ENST00000395484.4:c.175G>T	ENSP00000378865.4:p.Gly59Trp
NM_138393.1:c.391G>T	NP_612402.1:p.Gly131Trp
NM_001329556.2:c.391G>T	NP_001316485.1:p.Gly131Trp
NM_138393.3:c.391G>T	NP_612402.1:p.Gly131Trp
NM_138393.4:c.391G>T MANE Select	NP_612402.1:p.Gly131Trp
NM_001329556.3:c.391G>T MANE Plus Clinical	NP_001316485.1:p.Gly131Trp