Canonical Allele Identifier: CA2581469987

Gene: ROPN1L

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.10463995C>A , CM000667.2:g.10463995C>A	GRCh38
NC_000005.9:g.10464107C>A , CM000667.1:g.10464107C>A	GRCh37
NC_000005.8:g.10517107C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274134.5:c.594-853C>A MANE Select	ENSP00000274134.4:n.594-853C>A
ENST00000274134.4:c.594-853C>A	ENSP00000274134.4:n.594-853C>A
ENST00000503804.5:c.594-853C>A	ENSP00000421405.1:n.594-853C>A
ENST00000510520.5:n.885+2636C>A
NM_001201466.1:c.594-853C>A	NP_001188395.1:n.594-853C>A
NM_031916.4:c.594-853C>A	NP_114122.2:n.594-853C>A
XM_006714503.2:c.593+2636C>A	XP_006714566.1:n.593+2636C>A
XM_006714504.2:c.593+2636C>A	XP_006714567.1:n.593+2636C>A
XM_011514190.1:c.26C>A	XP_011512492.1:p.Thr9Lys
XM_006714504.3:c.593+2636C>A	XP_006714567.1:n.593+2636C>A
XM_011514190.2:c.26C>A	XP_011512492.1:p.Thr9Lys
XM_017009946.2:c.593+2636C>A	XP_016865435.1:n.593+2636C>A
XM_017009947.2:c.593+2636C>A	XP_016865436.1:n.593+2636C>A
NM_031916.5:c.594-853C>A MANE Select	NP_114122.2:n.594-853C>A
NM_001201466.2:c.594-853C>A	NP_001188395.1:n.594-853C>A