Canonical Allele Identifier: CA15389793

Gene: REEP5 SRP19

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112889255G>C , CM000667.2:g.112889255G>C	GRCh38
NC_000005.9:g.112224952G>C , CM000667.1:g.112224952G>C	GRCh37
NC_000005.8:g.112252851G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_005669.5:c.352-2072C>G (REEP5) MANE Select	NP_005660.4:n.352-2072C>G
ENST00000379638.9:c.352-2072C>G (REEP5) MANE Select	ENSP00000368959.4:n.352-2072C>G
NM_001204199.1:c.302-2348G>C (SRP19)	NP_001191128.1:n.302-2348G>C
NM_001204199.2:c.302-2348G>C (SRP19)	NP_001191128.1:n.302-2348G>C
NM_005669.4:c.352-2072C>G (REEP5)	NP_005660.4:n.352-2072C>G
ENST00000261482.8:c.325-2072C>G (REEP5)	ENSP00000261482.4:n.325-2072C>G
ENST00000379638.8:c.352-2072C>G (REEP5)	ENSP00000368959.4:n.352-2072C>G
ENST00000391338.3:c.302-2348G>C (SRP19)	ENSP00000375133.2:n.302-2348G>C
ENST00000474542.2:n.482-2072C>G (REEP5)
ENST00000497856.6:n.860-2072C>G (REEP5)
ENST00000503445.5:n.472-2348G>C
ENST00000504247.1:c.213-2072C>G (REEP5)	ENSP00000421881.1:n.213-2072C>G
ENST00000506997.1:c.*81-2348G>C	ENSP00000424153.1:n.*81-2348G>C
ENST00000506997.2:c.*81-2348G>C (SRP19)	ENSP00000424153.1:n.*81-2348G>C
ENST00000509024.2:n.352-2348G>C
ENST00000511865.6:c.760-2072C>G (REEP5)
ENST00000512790.5:n.374-2348G>C
ENST00000513339.5:c.352-10420C>G (REEP5)	ENSP00000425901.1:n.352-10420C>G
XM_017009844.2:c.352-2072C>G (REEP5)	XP_016865333.1:n.352-2072C>G