Canonical Allele Identifier: CA3368592

Gene: REEP5 SRP19 ZRSR2P1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112892102A>G , CM000667.2:g.112892102A>G	GRCh38
NC_000005.9:g.112227799A>G , CM000667.1:g.112227799A>G	GRCh37
NC_000005.8:g.112255698A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_005669.5:c.352-4919T>C (REEP5) MANE Select	NP_005660.4:n.352-4919T>C
ENST00000379638.9:c.352-4919T>C (REEP5) MANE Select	ENSP00000368959.4:n.352-4919T>C
NM_001204199.1:c.*495A>G (SRP19)	NP_001191128.1:n.*495A>G
NM_001204199.2:c.*495A>G (SRP19)	NP_001191128.1:n.*495A>G
NM_005669.4:c.352-4919T>C (REEP5)	NP_005660.4:n.352-4919T>C
ENST00000261482.8:c.325-4919T>C (REEP5)	ENSP00000261482.4:n.325-4919T>C
ENST00000379638.8:c.352-4919T>C (REEP5)	ENSP00000368959.4:n.352-4919T>C
ENST00000391338.2:c.463A>G (ZRSR2P1)	ENSP00000375133.1:p.Ser155Gly
ENST00000391338.3:c.*495A>G (SRP19)	ENSP00000375133.2:n.*495A>G
ENST00000474542.2:n.482-4919T>C (REEP5)
ENST00000497856.6:n.859+348T>C (REEP5)
ENST00000504247.1:c.213-4919T>C (REEP5)	ENSP00000421881.1:n.213-4919T>C
ENST00000506997.1:c.*580A>G	ENSP00000424153.1:n.*580A>G
ENST00000506997.2:c.*580A>G (SRP19)	ENSP00000424153.1:n.*580A>G
ENST00000511865.6:c.759+348T>C (REEP5)
ENST00000512790.5:n.873A>G
ENST00000512790.6:n.493A>G (ZRSR2P1)
ENST00000513339.5:c.351+10278T>C (REEP5)	ENSP00000425901.1:n.351+10278T>C
XM_017009844.2:c.352-4919T>C (REEP5)	XP_016865333.1:n.352-4919T>C