Canonical Allele Identifier: CA3368435

Gene: REEP5 SRP19

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112886997C>G , CM000667.2:g.112886997C>G	GRCh38
NC_000005.9:g.112222694C>G , CM000667.1:g.112222694C>G	GRCh37
NC_000005.8:g.112250593C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_005669.5:c.520+18G>C (REEP5) MANE Select	NP_005660.4:n.520+18G>C
ENST00000379638.9:c.520+18G>C (REEP5) MANE Select	ENSP00000368959.4:n.520+18G>C
NM_001204199.1:c.302-4606C>G (SRP19)	NP_001191128.1:n.302-4606C>G
NM_001204199.2:c.302-4606C>G (SRP19)	NP_001191128.1:n.302-4606C>G
NM_005669.4:c.520+18G>C (REEP5)	NP_005660.4:n.520+18G>C
ENST00000261482.8:c.493+18G>C (REEP5)	ENSP00000261482.4:n.493+18G>C
ENST00000379638.8:c.520+18G>C (REEP5)	ENSP00000368959.4:n.520+18G>C
ENST00000391338.3:c.302-4606C>G (SRP19)	ENSP00000375133.2:n.302-4606C>G
ENST00000497856.6:n.1028+18G>C (REEP5)
ENST00000503445.5:n.472-4606C>G
ENST00000506997.1:c.*81-4606C>G	ENSP00000424153.1:n.*81-4606C>G
ENST00000506997.2:c.*81-4606C>G (SRP19)	ENSP00000424153.1:n.*81-4606C>G
ENST00000509024.2:n.352-4606C>G
ENST00000511865.6:c.928+18G>C (REEP5)
ENST00000512790.5:n.374-4606C>G
ENST00000513339.5:c.352-8162G>C (REEP5)	ENSP00000425901.1:n.352-8162G>C
XM_017009844.2:c.538G>C (REEP5)	XP_016865333.1:p.Asp180His