Canonical Allele Identifier: CA360621370

Gene: REEP5 SRP19 ZRSR2P1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112892104T>A , CM000667.2:g.112892104T>A	GRCh38
NC_000005.9:g.112227801T>A , CM000667.1:g.112227801T>A	GRCh37
NC_000005.8:g.112255700T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_005669.5:c.352-4921A>T (REEP5) MANE Select	NP_005660.4:n.352-4921A>T
ENST00000379638.9:c.352-4921A>T (REEP5) MANE Select	ENSP00000368959.4:n.352-4921A>T
NM_001204199.1:c.*497T>A (SRP19)	NP_001191128.1:n.*497T>A
NM_001204199.2:c.*497T>A (SRP19)	NP_001191128.1:n.*497T>A
NM_005669.4:c.352-4921A>T (REEP5)	NP_005660.4:n.352-4921A>T
ENST00000261482.8:c.325-4921A>T (REEP5)	ENSP00000261482.4:n.325-4921A>T
ENST00000379638.8:c.352-4921A>T (REEP5)	ENSP00000368959.4:n.352-4921A>T
ENST00000391338.2:c.465T>A (ZRSR2P1)	ENSP00000375133.1:p.Ser155Arg
ENST00000391338.3:c.*497T>A (SRP19)	ENSP00000375133.2:n.*497T>A
ENST00000474542.2:n.482-4921A>T (REEP5)
ENST00000497856.6:n.859+346A>T (REEP5)
ENST00000504247.1:c.213-4921A>T (REEP5)	ENSP00000421881.1:n.213-4921A>T
ENST00000506997.1:c.*582T>A	ENSP00000424153.1:n.*582T>A
ENST00000506997.2:c.*582T>A (SRP19)	ENSP00000424153.1:n.*582T>A
ENST00000511865.6:c.759+346A>T (REEP5)
ENST00000512790.5:n.875T>A
ENST00000512790.6:n.495T>A (ZRSR2P1)
ENST00000513339.5:c.351+10276A>T (REEP5)	ENSP00000425901.1:n.351+10276A>T
XM_017009844.2:c.352-4921A>T (REEP5)	XP_016865333.1:n.352-4921A>T