Canonical Allele Identifier: CA370520722

Gene: REEP4

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.22140236T>G , CM000670.2:g.22140236T>G	GRCh38
NC_000008.10:g.21997749T>G , CM000670.1:g.21997749T>G	GRCh37
NC_000008.9:g.22053694T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_025232.4:c.118A>C MANE Select	NP_079508.2:p.Met40Leu
ENST00000306306.8:c.118A>C MANE Select	ENSP00000303482.3:p.Met40Leu
NM_001316964.1:c.118A>C	NP_001303893.1:p.Met40Leu
NM_001316964.2:c.118A>C	NP_001303893.1:p.Met40Leu
NM_001316965.1:c.118A>C	NP_001303894.1:p.Met40Leu
NM_001316965.2:c.118A>C	NP_001303894.1:p.Met40Leu
NM_025232.2:c.118A>C	NP_079508.2:p.Met40Leu
NM_025232.3:c.118A>C	NP_079508.2:p.Met40Leu
ENST00000306306.7:c.118A>C	ENSP00000303482.3:p.Met40Leu
ENST00000334530.9:c.118A>C	ENSP00000333889.5:p.Met40Leu
ENST00000518664.5:n.538A>C
ENST00000519074.5:n.404A>C
ENST00000519875.1:n.405A>C
ENST00000521744.1:c.136A>C	ENSP00000429451.1:p.Met46Leu
ENST00000523293.2:c.118A>C	ENSP00000428709.1:p.Met40Leu