Canonical Allele Identifier: CA504733375

Gene: REEP6

Linked Data

• MyVariant Identifiers: chr19:g.1496331T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1496332T>A , CM000681.2:g.1496332T>A	GRCh38
NC_000019.9:g.1496331T>A , CM000681.1:g.1496331T>A	GRCh37
NC_000019.8:g.1447331T>A	NCBI36
NG_055254.1:g.10328T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000233596.8:c.396T>A MANE Select	ENSP00000233596.2:p.Ala132=
ENST00000395479.10:c.396T>A MANE Plus Clinical	ENSP00000378861.5:p.Ala132=
ENST00000233596.7:c.396T>A	ENSP00000233596.2:p.Ala132=
ENST00000395479.8:c.212T>A
ENST00000395484.4:c.180T>A	ENSP00000378865.4:p.Ala60=
NM_138393.1:c.396T>A	NP_612402.1:p.Ala132=
NM_001329556.2:c.396T>A	NP_001316485.1:p.Ala132=
NM_138393.3:c.396T>A	NP_612402.1:p.Ala132=
NM_138393.4:c.396T>A MANE Select	NP_612402.1:p.Ala132=
NM_001329556.3:c.396T>A MANE Plus Clinical	NP_001316485.1:p.Ala132=