Canonical Allele Identifier: CA360621361

Gene: REEP5 SRP19 ZRSR2P1

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
NM_005669.5:c.352-4919T>G (REEP5) MANE Select	NP_005660.4:n.352-4919T>G
ENST00000379638.9:c.352-4919T>G (REEP5) MANE Select	ENSP00000368959.4:n.352-4919T>G
NM_001204199.1:c.*495A>C (SRP19)	NP_001191128.1:n.*495A>C
NM_001204199.2:c.*495A>C (SRP19)	NP_001191128.1:n.*495A>C
NM_005669.4:c.352-4919T>G (REEP5)	NP_005660.4:n.352-4919T>G
ENST00000261482.8:c.325-4919T>G (REEP5)	ENSP00000261482.4:n.325-4919T>G
ENST00000379638.8:c.352-4919T>G (REEP5)	ENSP00000368959.4:n.352-4919T>G
ENST00000391338.2:c.463A>C (ZRSR2P1)	ENSP00000375133.1:p.Ser155Arg
ENST00000391338.3:c.*495A>C (SRP19)	ENSP00000375133.2:n.*495A>C
ENST00000474542.2:n.482-4919T>G (REEP5)
ENST00000497856.6:n.859+348T>G (REEP5)
ENST00000504247.1:c.213-4919T>G (REEP5)	ENSP00000421881.1:n.213-4919T>G
ENST00000506997.1:c.*580A>C	ENSP00000424153.1:n.*580A>C
ENST00000506997.2:c.*580A>C (SRP19)	ENSP00000424153.1:n.*580A>C
ENST00000511865.6:c.759+348T>G (REEP5)
ENST00000512790.5:n.873A>C
ENST00000512790.6:n.493A>C (ZRSR2P1)
ENST00000513339.5:c.351+10278T>G (REEP5)	ENSP00000425901.1:n.351+10278T>G
XM_017009844.2:c.352-4919T>G (REEP5)	XP_016865333.1:n.352-4919T>G