Canonical Allele Identifier: CA504733269

Gene: REEP6

Linked Data

• dbSNP Id: rs2085005822
• gnomAD v3: 19-1496320-C-T
• gnomAD v4: 19-1496320-C-T
• MyVariant Identifiers: chr19:g.1496319C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1496320C>T , CM000681.2:g.1496320C>T	GRCh38
NC_000019.9:g.1496319C>T , CM000681.1:g.1496319C>T	GRCh37
NC_000019.8:g.1447319C>T	NCBI36
NG_055254.1:g.10316C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000233596.8:c.384C>T MANE Select	ENSP00000233596.2:p.Pro128=
ENST00000395479.10:c.384C>T MANE Plus Clinical	ENSP00000378861.5:p.Pro128=
ENST00000233596.7:c.384C>T	ENSP00000233596.2:p.Pro128=
ENST00000395479.8:c.200C>T
ENST00000395484.4:c.168C>T	ENSP00000378865.4:p.Pro56=
NM_138393.1:c.384C>T	NP_612402.1:p.Pro128=
NM_001329556.2:c.384C>T	NP_001316485.1:p.Pro128=
NM_138393.3:c.384C>T	NP_612402.1:p.Pro128=
NM_138393.4:c.384C>T MANE Select	NP_612402.1:p.Pro128=
NM_001329556.3:c.384C>T MANE Plus Clinical	NP_001316485.1:p.Pro128=